Genetics Laboratory Manual

GE
GENETICS
LABORATORY
MANUAL
DR.C.V.NARASIMHA MURTHY
ASSOCIATE PROFESSOR (CONTRACT)
DEPARTMENT OF ZOOLOGY
V.S.UNIVERISTY POSTGRADUATE CENTRE,
KAVALI.
2018
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GENETICS LAB MANUAL, M.Sc. Zoology (p) VSUPGC. Dr.C.V.NARASIMHA MURTHY 2018
GENETICS LABORATORY MANUAL
INDEX
S.NO. TITLE OF THE EXPERIMENT PAGE NO.
1 A B O blood grouping 3
2 Determination of Rh Factor 6
3 Assessment of colour vision deficiency by Dr. Ishihara test 8
4 Sickling of erythrocytes 10
5 PTC taste test 13
6 Population Genetics 18
7 Preparation of pedigree chart 23
8 Pedigree analysis: pract ice problems 30
9 Exercises on monohybrid cross 32
10 Exercises on dyhybride cross 35
11 Exercises on Recombination 37
12 Exercises on complete dominance and incomplete dominance 39
13 Exercises on co dominance 40
14 Exercises on lethal genes 41
15 Exercise on sex linked inheritance 42
16 Genetic disorders 44
17 Study of mult ifactorial inheritance o f finger print ridge count

pattern by dact yloscopy
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Genetics lab manual. M.Sc.(p) Zoology. Dr.C.V.Narasimha Murthy. Associate Professor(contract. )

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A B O BLOOD GROUPING
Aim:
To determine the blood group of a given blo od sample by slide agglut inat ion test fro m
ABO blood group system.
Requirements:
1. Blood t yping serum (ant i a, Ant i b),
2. 70% alco ho l,
3. Microscope slides,
4. Tooth picks,
5. Cotton,
6. Needles,
7. Glass marking
pen,
8. Blood lancet.
Principle:
In 1990 Karl
Land Steiner reported
different
immuno logical human
blood types. E.g.: A, B,
AB, and O these blood
groups are called Land
Steiner groups. Or
ABO blood groups.
The ABO blood groups
are genet ically
controlled. Type A blood has an ant igens on RBC and ant ibodies in plasma. Type B
blood has B ant igens on the surface o f RBC and ant ibodies in the plasma. Type AB has
both a and b ant igens on the surface o f the RBC and no ant ibodies are seen. Type O has
no ant igens and has both ant ibodies. These ant ibodies have no effect on RBC o f the
same individual, but when mixed wit h RBC of a different blood t ype a vio lent in
compat ibilit y react ion may occur during blo od transfusio n and may be fatal.
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A, B, AB, O typing of blood is based on principle of agglut inat ion a type of serological
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react ion that occurs between part icular ant igen and specific ant ibodies that leads to

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clump ing. The cells involved are RBC and react ion is haemoagglut inat ion. The slide
agglut inat ion test is used to determine a person’s blood group be performed by
separately mixing a drop of blood with ant igen
a and ant ibody b solut ion on a glass slide. A characterist ic microscopically visible
agglut inat ion takes place on the slide.
Procedure:
The subject was made to sit comfortably o n a stool and cleaned his finger wit h
surgical spirit. A prick was made to finger with a needle as described for the collect io n
of capillary blood. Divided a microscopic slide in half by drawing a line in the middle
of it. Transversely marked letter A on left side and B on right side as shown in the
figure. Squeezed the finger and allowed a drop or two drops of blood to fall on each
side of the slide. Placed one drop of ant iserum. A & B into appropriately labeled drop
of blood on the slide. Using separate toothpicks mixed the serum and blood drops.
Moved the slide for two minutes.
Observation:
First whether agglut inat ion occurred or not is
observed. If there is no agglut inat io n the sample
blood is confirmed as O group. If there is
agglut inat ion on A then it A group. If there is
agglut inat ion on B then it B group. If there is
agglut inat ion on A as well as B then it AB
Result No clumping in both cavit ies blo od
group =O
Clumping in A blood group = A
Clumping in B blood group = B
Clumping in both A& B blood group = AB
S.NO. NAME GROUP

1
2
3
4
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Inference:
The term blood group is applied to any well- defined system o f red blood cell
ant igens, which are inherited characterist ics. Over 20 blood group systems having
approximately 400 blood group ant igens are current ly recognized. The A B O and the
rhesus Rh blood group systems are of major clinical significance. Other minor and
clinically less important blood group systems are : Lewis system, P system, I system,
MNS system, ell and Duffy system, and Lutheran system. Individuals who lack the
corresponding ant igen and have not been previously transfused have natural occurring
ant ibodies in their serum. The most important are ant i a and ant i b ant ibodies. On the
other hand are acquired in response to transfusio n and by Tran placental passage
during pregnancy. These are warm ant ibodies usually o f IgG G class. This system
consists o f 3 major allelic genes:A,B and O located on the lo ng arm o f chro moso me 9.
These genes control the synt hesis o f blood group antigens A and B . The serum of
individual contains naturally occurring ant ibodies.
Blood groups are inherited fro m both parents. The ABO blood type is controlled
by a single gene (the ABO gene) wit h three types o f alleles inferred fro m classical
genet ics: i, I A , and I B . The I designat ion stands for iso agglutinogen, another term for
ant igen. [ The gene encodes a glycosyl transferase—t hat is, an enzyme that modifies
the carbo hydrate content of the red blood cell ant igens. The gene is located on the long
arm o f the nint h chromosome (9q34).
The I A allele gives t ype A, I B gives type B, and i gives t ype O. As both I A and I B are
dominant over i, only ii people have t ype O blood. Individuals wit h I A I A or I A i have
type A blood, and individuals wit h I B I B or I B i have t ype B. I A I B people have both
phenotypes, because A and B express a special do minance relat ionship: co dominance,
which means that type A and B parents can have an AB child. A couple with t ype A and
type B can also have a type O child if they are both heterozygous (I B i,I A i) The cis-AB
phenotype has a single enzyme that creates both A and B ant igens. The result ing red
blood cells do not usually express A or B antigen at the same level t hat would be
expected on common group A 1 or B red blood cells, which can help so lve the problem
of an apparent ly genet ically impossible blo od group.
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DETERM INATION OF Rh FACTOR
AIM
To determine the presence of D- ant igen and there by the Rh status of given blood
sample.
Introduction:
The Rh factor is a protein that can be present on the surface o f red blood cells.
Most people have the Rh factor—they are Rh posit ive. Others do not have the Rh
factor—they are Rh negat ive. The Rh factor is inherit ed—passed down through
parents’ genes to their children. If the mother is Rh negat ive and the fat her is Rh
posit ive, the fetus can inherit the Rh gene from the father and could be eit her Rh
posit ive or Rh negat ive. If the mother and father is both Rh negat ive, the baby also will
be Rh negat ive. The Rh factor can cause problems if you are Rh negat ive and your
fetus is Rh posit ive. This is called Rh inco mpatibilit y. These problems usually do not
occur in a first pregnancy, but they can occur in a later pregnancy. When an
Rh-negat ive mother’s blood comes into contact with blood from her Rh-posit ive fetus,
it causes the Rh-negat ive mother to make antibodies against the Rh factor. These
ant ibodies attack the Rh factor as if it were a harmful substance. A person wit h
Rh-negat ive blood who makes Rh ant ibodies is called "Rh sensit ized." During
pregnancy, the woman and fetus do not share blood systems. However, a small amount
of blood from the fetus can cross the placenta into the woman’s system. This
so met imes may happen during pregnancy, labor, and birth. It also can occur if an
Rh-negat ive woman has had any of the fo llo wing during pregnancy: During an
Rh-negat ive woman’s first pregnancy wit h an Rh-posit ive fetus, serious problems
usually do not occur because t he baby often is born before the wo man’s body develops
many ant ibodies. If prevent ive treatment is not given during the first pregnancy and
the woman later becomes pregnant with an Rh-posit ive fetus, the baby is at risk o f Rh
disease. It also is possible to develop ant ibodies after a miscarriage, an ectopic
pregnancy, or an induced abortion. If an Rh-negat ive wo man beco mes pregnant after
one of these events, she does not receive treatment, and the fetus is Rh posit ive, the
fetus may be at risk of Rh-related problems. Problems during pregnancy can occur
when Rh ant ibodies from an Rh-sensit ized woman cross the placenta and attack the
blood of an Rh-posit ive fetus. The Rh ant ibodies destroy so me o f the fetal red blood
cells. This causes hemolytic anemia, where red blood cells are destroyed faster than
the body can replace them. Red blood cells carry oxygen to all parts of the body.
Wit hout enough red blood cells, the fetus will not get enough oxygen. Hemo lyt ic
anemia can lead to serious illness. Severe hemo lyt ic anemia may even be fatal to the
fetus.
Requirements
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1. Rh typing serum,
2. Blood lancelet,
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3. 70% alco ho l,
4. Cotton,
5. Toothpick.
Principle:
‘Land Steiner’ and ‘winner’ are the first persons to report the Rh factor,
which is designed as D-ant igen. Human blood cells are classified as Rh+ and Rh_
depending up on the presence of D ant igen on them.
Human blood cells processing one ant igen will agglut inate in presence of
Corresponding ant ibody and hence called Rh posit ive. If agglut inat io n is not obtained
with ant i Rh ant ibodies then it is called Rh negative. The Rh factor discovery led to an
explanat io n of eryt hroblastosis foetalisis. The presence of the Rh factor in human
blood is determined by agglut inat ion test between ant i D t yping serum and RBC.
PROCEDURE
One drop of anti D serum was placed on a clean glass slide and added 1 or 2drops of
blood. Mix the blood with serum thoroughly with a tooth pick. Rock the slide back and
forth for a minute and observed for agglut inatio n. Agglut inat ion indicate Rh posit ive
.
OBSERVATION
S.NO. NAME RH
INFERENCE: FACTOR
The rhesus blood group system
1
was first discovered in human
red cells by the use of ant iserum
2
prepared by immunizing rabbit s
with red cells from a rhesus
3
mo nkey. The Rh allelic genes
are C or c , D or d and E or e, 4
located on first chromosome.
One set of 3 genes is inherited 5
fro m each parent-giving rise to
various co mplex combinat ions. The corresponding ant igens are similarly named as Cc
,Ee and only D since no d ant igen exist s. However, out of all these D ant igen is most
strongly immunogenic and therefore clinically more important. In practice Rh group is
performed wit h ant i d serum. Individually those who have D ant igen are referred as Rh
Posit ive. And those who lack this are called as Rh negat ive. Practically there are no
naturally occurring ant ibodies. All Rh ant ibodies in Rh-negat ive individuals are
acquired from immunizat ion such as by transfusion and during pregnancy, result s in
fatal hemolyt ic transfusion react ion.
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ASSESSMENT OF COLOUR VISION DEFICIENCY BY Dr. ISHIHARA TEST
Aim: To accesses colour vision deficiency of congenital origin by reading colour

coded numbers in the plate designed by Dr.Ishihara.
Method : Ishihara method
Introduction:
Color blindness, also known as color vision deficiency, is the decreased abilit y to see
color or differences in co lor. Color blindness can make so me educat ional act ivit ies
difficult [2 ] Buying fruit, picking clot hing, and reading traffic lights can be more
challenging, for example Problems, however, are generally minor and most people
adapt. [2 ] People wit h total color blindness, however, may also have decreased visual
acuit y and be uncomfortable in bright environments.
The most common cause of color blindness is an inherited fault in the development of
one or more of the three sets of co lor sensing cones in the eye. Males are more likely
to be co lor blind than females, as the genes responsible for the most common forms o f
color blindness are on the X chro mosome. As females have two X chromosomes, a
defect in one is typically compensated for by the other, while males only have one X
chro moso me. Color blindness can also result fro m physical or chemical damage to the
eye, optic nerve, or parts of the brain Diagnosis is t ypically wit h the Ishihara color
test; however a number of other testing methods also exist.
There is no cure for color blindness. [ Diagnosis may allow a person's teacher to change
their method of teaching to accommodate the decreased abilit y to recognize co lors
Special lenses may help people wit h red–green co lor blindness when under bright
condit io ns. Red–green co lor blindness is the most common form, followed by
blue–yellow color blindness and total co lor blindness. The abilit y to see color also
decreases in old age. Being color blind may make people inelig ible for certain jo bs in
certain countries. [1 ] This may include pilot, train driver, and armed forces. The effect
of co lor blindness on art ist ic abilit y, however, is controversial.
Principle:
The shades of the colour either in the form of numerals or shaded parts are
ident ified correctly by an individual in a room wit h adequate day light. The numerals
on the plate one to twent y five ident ified by the subject are compared wit h standard
table to judge whether the subject has only red, green, deficiency or total co lour
blindness.
Procedure:
A Mobile applicat ion called Ishihara colour Blindness test will be down loaded
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in to a smart cell phone and experiment was conducted with that applicat ion . that
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applicat ion contains number of plates designated as one to twent y five read correctly
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in a room wit h sufficient day light. Cell phone is Kept 75cm away fro m the subject
in t ilted posit ion, so that the plates is at right angle to the line o f visio n. Each answers
recorded without more than three seconds delay. The answers were recorded by
software .Software decides you are normal or colour blind If 17 or more number o f
the plates are read correctly, then the subject is considered as normal person. If only
thirteen(13) or less than thirteen(13) read correctly then it is regarded as deficient
colour vision. plates 21,22,23, and 24 and are used to find out whether subject has
strong or mild colour blindness.
Observation table:
PLATE NO: NUMERALS AND STANDARD RESULT
IDENTIFIED BY NUMBER
THE STUDENT
1
2
RESULT TABLE :
S.NO NAME OF THE MALE NUMBER OF NORMAL OR
STUDENT /FEMALE NUMERALS COLOURE
IDENTIFIED VISION
CORRECTLY
1
2
3
4
5
6
7
8
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Discussion:
Co lour blindness is a usually a genet ic (hereditary) co ndit ion (you are born wit h it).
Red/green and blue colour blindness is usually passed down fro m your parents. The
gene which is responsible for the condit io n is carried on the x chro moso me and this is
the reason why many more men are affected than wo men.
The effects of colour vision deficiency can be mild, moderate or severe depending
upon the defect. If you have inherit ed co lour blindness your condit io n will stay the
same throughout your life – it won’t get any better or worse.
The ret ina of the eye has two types o f light-sensit ive cells called rods and cones. Both
are found in the ret ina which is the layer at the back of your eye which processes
images. Rods work in low light condit ions to help night vision, but cones work in
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daylight and are responsible for co lour discriminat io n.

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There are three t ypes of cone cells and each type has a different sensit ivit y to light
wavelengths. One t ype of cone perceives blue light, another perceives green and the
third perceives red. When you look at an object, light enters your eye and st imu lates
the cone cells. Your brain then int erprets the signals fro m the cones cells so that you
can see the colour of the object. The red, green and blue cones all work together
allo wing you to see the whole spectrum of colours. For example, when the red and blue
cones are simulated in a certain way you will see the co lour purple.
The exact physical causes of colour blindness are st ill being researched but it is
believed that colour blindness is usually caused by fault y cones but somet imes by a
fault in the pathway from the cone to the brain.
People wit h normal colour vision have all three types o f cone/pathway working
correctly but colour blindness occurs when one or more of the cone t ypes are fault y.
For example, if the red cone is fault y you won’t be able to see colours containing red
clearly. Most people wit h colour blindness can’t dist inguish certain shades o f red and
green.
SICKLING OF ERYTHORCYTES
AIM : To observe Sickling pheno menon in human eryt hrocytes.

INTRODUCTION:
Sickle cell disease is an autosomal recessive disease commo nly found in
African populat ions. The disease gets its name fro m the fact that patients’ red blood
cells beco me sickle-shaped when passing through the capillaries of metabo lically
act ive t issues. These red blood cells beco me frail and can rupture long before their
normal lifespan. The sickled red blood cells blo ck capillar ies and inhibit red blood cell
funct io n, causing severe anemia in sufferers.
The mo st common hemoglobin of adult s is hemoglo bin A (HbAHb^\text{A}HbAH, b,
start superscript, A, end superscript). However pat ients suffering from sickle cell
disease are ho mozygous for the allele coding for the abnormal variant of hemoglo bin
(HbSHb^\text{S}HbSH, b, start superscript, S, end superscript) due to a missense
mutatio n in the gene encoding the β subunit of hemoglo bin. This missense mutation
replaces glutamic acid wit h valine at the sixth posit ion of the β-glo bin chain.
The absence of a polar amino acid at this posit io n pro motes the no n-covalent
aggregat ion of hemoglo bin in a low-oxygen environment which distorts red blood
cells into a sickle shape and decreases their elast icit y. Biochemically, the low oxygen
enviro nment causes the beta chain o f neighboring hemoglo bin mo lecules to hook
together, becoming rigid and polymerized. These cells fail to return to their normal
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shape when oxygen is restored and thus fail to deform as they pass through narrow
vessels, leading to blockage in the capillaries.
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In vitro studies of deoxygenat ion and reoxygenat ion o f sickle-cell hemoglo bin

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indicates that the process is reversible. The
hemoglobin molecules polymerize and form
crystals as oxygen concentration is lowered.
But as the oxygen concentration is increased
again, hemoglobin molecules can depo lymerize
and return to their soluble state. This can be
written as:
Figure 1. The equilibrium react ion equat ion

relates non-sickled hemoglobin wit h sickle cell
hemoglobin polymers.
The discovery of the sickle cell mutation came

fro m isoelectric focusing, a type of
electrophoresis that separates complex mixtures
of large molecules by applying an electric
current. Hemoglo bin taken fro m pat ients
suffering from sickle cell anemia, individuals
who were heterozygous for the abnormal
variant, and those that did not have the sickle cell allele were subjected to isoelectric
focusing, the following result s were obtained:
Figure 2. Distribut ion of hemoglobin protein posit io n alo ng gel after isoelectric
focusing.
The discovery of the sickle cell mutation came from isoelectric focusing, a type of
electrophoresis that separates complex mixt ures of large mo lecules by applying an
electric current. Hemoglobin taken fro m patients suffering fro m sickle cell anemia,
individuals who were heterozygous for the abnormal variant, and those that did not
have the sickle cell allele were subjected to isoelectric focusing, the fo llowing result s
were obtained:
PROCEDURE :
1ml of venous blood is collected in to a test tube using heparin as an ant i
coagulant . one drop of this blood is added to 1ml of 2% sodium meta bisulphit e and
kept for one hour. It should properly stoppered to prevent passage o f air in to the
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mediu m. After one hour a drop of blood is taken on to the slide and blood smear is
piped . This was observed in microscope high power object ive after putting the
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cover slip . It is compared wit h normal bloo d sample wit hout adding of sodium meta
bisulphite .
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Amino acids of sickle cell anemia
OBSERVATION: S.NO HB A HB S
Sickle cell shaped RBC are observed 1 VALINE VALINE
on slide 2 HISTIDINE HISTIDINE
3 LEUCIEN LEUCIEN
Sickle cell disease (SCD) is a glo bal 4 THREONINE THREONINE
public healt h disorder that affects 5 PROLINE PROLINE
millio ns of people across the globe. It is 6 GLUTAMIC ACID VALIN
a monogenic disorder caused by an
A-to-T point mutat ion in the β-globin
gene that produces abnormal hemoglo bin S (Hb S), which po lymerizes in the
deoxygenated state, result ing in physical deformat ion or Sickling of eryt hrocytes.
Sickle eryt hrocytes promote vaso-occlusion and hemolysis, which are two major
cellular hallmarks of the disease.
Rapid advances made in
understanding the molecular
genet ics of SCD in the early part of
the 20th century have not been
matched by comparable progress
towards understanding its clinical
complicat ions, and developing
effect ive therapies. Contemporary
reevaluat ion of SCD as the product
of mult iple gene interact ions
promises to overco me the historical constraints

of the single-gene disease paradigm that has
inevitably impeded translat io n of research
discoveries into clinical benefit.
Structural Gene: Relationship to Sickle

Mutation. That study described the presence of
single-nucleotide po lymorphisms in the human
geno me for the first time, and it init iated a new
avenue o f research that led to the discovery of
the mult icentric origin of the sickle mutat ion, and it laid the foundat ions for genet ic
associat ion studies in SCD, which are current ly a major focus of several
invest igat ions.
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The scope of SCD research expanded beyo nd the erythrocyte in the 1980s to
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enco mpass vascular biology, notably the endothelium, coagulat ion, and inflammat io n.
Twent y years later, the most compelling evidence that these factors play a crit ical ro le
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in the pathogenesis of SCD is the demo nstration that tumor necrosis factor induced
adhesio n of leukocytes to the vascular endotheliu m provides the init ial cellular events
of vaso-occlusio n in a mouse model of SCD. Paradigm-shift ing insights into the
mechanisms of globin gene expressio n spearheaded by the discovery o f the locus
control region (LCR) by two groups in the 1990s heralded a new era in SCD research.
First, these insights helped to create developmentally regulated and clinically relevant
transgenic mouse models of SCD. Second, they permitted the development of
efficacious DNA vectors for gene therapy of SCD that continue to improve as novel
elements of gene delivery systems become available and are incorporated into newer
generat ion vectors.
References
Board, A.D.A.M. Editorial. "Causes, Incidence, and Risk Factors." Sickle Cell
Anemia. U.S. National Library of Medicine, 18 Nov. 0000. Web. 14 Apr. 2012.
STUDIES ON DIFFERENTIAL ABILITY OF TASTEING PTC

(PHENYLTHIOCARBAMIDE)
AIM: To find out different ial abilit y o f tasting PTC (Phenylt hiocarbamide)
METHOD : Harries and Kalmus method 1949.
INTRODUCTION
: The different ial abilit y to taste PTC (Phenylt hio carbamide) was accidentally
discovered in the early 1930s by Dr. Arthur L. Fox. The history of this discovery is
retold in Wooding (2006). Dr. Fox had synt hesized PTC and was transferring the
substance into a bottle when a co-worker complained about the bitter taste of the dust.
Fox himself tasted nothing. Further invest igatio n determined that PTC taste abilit y is
a do minant trait in humans and this discovery has led to over 80 years o f research on
the genet ics of taste variabilit y. Kim et al. (2003) determined that the TAS2R38 bitter
taste receptor gene on chromosome 7 is responsible for the abilit y to taste PTC and
ident ified three common single nucleot ide polymorphisms (SNPs) associated wit h
PTC taste sensibilit y (C/G 145, C/T 785, G/A 886). The first SNP at base 145 is
associated wit h 85% of PTC taste abilit y and encodes for proline (taster) or alanine
(non-taster) at amino acid 49. In the USA, 70-75% of people are tasters. Interestingly the ability
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to taste PTC can vary up to 5 orders of magnitude (Blakeslee, 1932).

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The ability to taste PTC is correlated to the presence of a thiourea moiety (N-C=S) within the
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compound (Fox, 1932). It is hypothesized that the ability to taste PTC could have a protective
advantage by allowing ident ificat ion o f bitter tasting toxic co mpounds in plants. For
example, over-ingest ion of certain compounds (goitrogens), in regions wit h low
iodine, is associated wit h thyroid disease and goiter suggest ing PTC sensit ivit y can
play a protective role (VanEtten, 1969; Wooding et al., 2004). However, other foods
contain bitter phytochemicals wit h thiourea mo iet ies that have possible
cancer-protective act ivit y and other advantageous healt h effects, examp les are green
tea, red wine, cruciferous vegetables and soy products.
Taste is a complicated process. Culture differences, age, desired healt hiness
and mood can all affect taste perceptio n. There has been increasing interest in PTC
sensit ivit y and the impact on dietary choices (Bufe et al., 2005; Drewnowski et al.,
2001; Laaksonen et al., 2013; Sandell & Breslin, 2006). In an interest ing twist, there
is evidence suggest ing that berries fro m the plant Antidesma busnius found in
Southeast Asia and northern Australia are bitter to PTC non-tasters and sweet to
tasters (Henkin & Gillis, 1977; Tharp et al., 2005). Recent TAS2R38 protein
modeling studies have suggested that the different receptor alleles may bind different
ligands wit h different downstream taste effects (Floriano et al., 2006; Tan et al.,
2012). Examinat ion o f the molecular evo lut ion of this gene suggests that natural
select ion has acted to maint ain taster and non-taster alleles in humans conferring an
advantage heterozygotes perhaps by increasing the repertoire o f bitter toxins that
can be detected through the diverse receptors (Wooding et al., 2004).
Principle:
Phenylthiocarbamide (PTC), also known as phenylthiourea (PTU), is an
organosulfur thiourea containing a phenyl ring. It has the unusual property that it
either tastes very bitter or is virtually tasteless, depending on the genet ic makeup o f
the taster. The abilit y to taste PTC is o ften treated as a do minant genet ic trait, alt hough
inherit ance and expression of this trait are somewhat more complex.PTC also inhibits
melanogenesis and is used to grow transparent fishOne study has found that
non-smokers and those not habituated to coffee or tea have a statist ically higher
percentage of tast ing PTC than the general populat ion..PTC does not occur in food,
but related chemicals do, and food cho ice is related to a person's abilit y to taste PTC.
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Preparation of PTC solutions

A series of solution of phenyl thiocarbamide solution was prepared
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by diluting the stock solution . The stock solution of PTC was prepared
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by dissolving 1.3 grams phenyl thiocarbamide in one liter of tap water.
This stock solution was labeled as solution-1.This solution was mixed
thoroughly to get a homogeneous solution . From this solution -1, 250 ml
was taken into a beaker and to this 25 ml of water was added and labeled it
as solution-II . solution-II was prepared in a similar way by mixing 25ml
tap water to 250ml of solution. Like this a series of solution up to solution
number -14 were prepared by mixing equal qualities of the preceding
solution and tap water until to get concentration of 0.16 mg /liter
(solution-14) .
All the solutions were maintained at room temperature .
EXPERIMENTAL PROCEDURE:
Filter paper strips were prepared. Each strip was dipped in phenyl
carbonyl solution and used. The individuals tasting in solution number
-14 and going to order of increasing concentration . The subject was asked
dip the strip in each concentration of phenyl thiocarbamyl solution and
placed it at bottom of the tongue to taste the bitterness of phenyl
thiocarbamide . .If the individual does not taste the bitterness then he/she
will be going for next higher concentration .
This taste was continued till the individual (subject) taste the
bitterness of the solution was noted down. The individuals who never
experienced bitterness were not tasters. The results are tabulated and the
individuals were categorized into tasters and non tasters . Further the
gene frequency of tasters and non tasters and calculated by taking the
square root of frequency and non tasters phenotype.
As the non tasters represents the recessive homozygotes in the
population, the homozygous and heterozygous frequencies can be
calculated from the frequencies can be calculated from the frequency of
non tasters phenotype by applying Hardy Weinberg law .Similarly the
frequencies of the gene with reference to sex is also calculated .
Reagent table :
SOLUTION NUMBER PHYNYL THICARBOMIDE CONCENTRATION
(MG.LITER)
1 1300
2 650
3 325
4 162.5
5 81.25
15
6 40.63
Page
7 20.3
VSUPGC, KAVALI 2018
8 10.15
9 5
10 2.54
11 1.27
12 0.63
13 0.22
14 0.16
OBSERVATION S
S.NO NAME OF THE SEX THRESHOLD TASTER OR
STUDENT CONC.OF NON
PTC TASTER
MODEL CALCULATION
Total students attended in the experiment = 44
Total number of tasters(p) = 36
Total number of non -tasters(q) = 08
According to Hardy Weinberg Law
P+q =1
16
(p+q) 2 =
1
2 2
P + q + 2pq =1
Page
Here
VSUPGC, KAVALI 2018
P2 = Homozygous dominant tasters
2
q = Homozygous recessive tasters ( frequency of recessive
genotype)
2pq = Heterozygous dominant tasters
q2 =
Number of recessive individuals/total population
2
q = 8/44 = 0.181
q = 0.42
P+q =1
``
p = q-1
P = 1-0.42
P = 0.58
P 2 + q 2 + 2pq =1 S.NO PARAMETER VALUE

2 2
(0.58) + (0.42) + 2(0.58)X(0.42) =1 1 Q2
0.3364 + 0.4872 +1764 =1 2 Q
3 P
CALCULATIONS 4 P2
5 Q2
RESULT 6 2PQ
Total students attended in the experiment 7 P 2 + Q 2 + 2PQ
=
Total number of tasters(p) =
Total number of non -tasters(q) =
INFERENCE Virtually all non-tasters (dd) cannot taste PTC, while ho mozygous
tasters (TT) occasionally report an inabilit y or weak abilit y to taste the chemical. The
heterozygous genot ype (Tt) has the "leakiest" phenotype as reduced or absent tasting
abilit y is relat ively common. This is formally called a heterozygous effect.
REFERENCES
1. Blakeslee, Albert (Jan 1932). "Genetics of Sensory Thresholds: Taste for

Phenyl Thio Carbamide". Proceedings of the National Academy of Sciences of
the United States of America. 18 (1): 120–130.
2. Harris H., Kalmus H. (1949): The measurement of taste sensit ivit y to
phenylt hiourea (PTC). Ann. Eugen. 15: 24-31, 1949
3. Kalmus, H. (1958): Improvements in the classificat ion of the taster genotypes.
Ann. Hum. Genet. 22: 222-230. [PubMed: 13534207.]
4. Harrison et al. (1977): Human bio logy – An introduction to human evo lut ion,
variat ion, growth and ecology. Oxford Universit y Press, Oxford,
17
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VSUPGC, KAVALI 2018
POPULATION GENETICS
OBECTIVES
1. Explain and define the terms populat ion genetics, genet ics, diplo id,
gene, genotype, phenot ype, allele, ho mozygote, and heterozygote.
2. Explain the difference between do minant and recessive alleles and how
these affect the phenotype (or survival) o f an organism.
3. Apply theHardy-Weinberg principle to populat io ns and properly use the
Hardy-Weinberg equat ion.
MATERIALS
1. Calculator
2. Cotton bags
3. 100 light-colored beads
4. 100 dark-colored beads
5. Tooth picks
INTRODUCTION
Population genetics is the study o f allele frequency distribut ion and change under the
influence of four main evolutionary processes: 1) Natural selection; 2) Genetic drift ; 3)
Mutation and 4) Gene flow. In other words, populat io n genet ics focuses on the
genet ic composit io n o f a populat ion and how it changes wit h t ime.
Genetics is the science of genes, heredit y and variat ion in living organisms.
Inheritance in organisms occurs by means o f discrete traits called genes. In a diploid
organism (an organism wit h paired chromosomes) two homologous chromosomes
(i.e. Two chromosomes with genes for the same characteristic at the same location or loci) are
inherit ed from t he parents. One chro mosome is fro m t he mother and one fro m the
father. This allows for the possibilit y of two alleles (alternate versio ns o f a gene or
two different forms of the dna sequence) o f each gene in an organism. Different DNA
sequences (alleles) can result in d ifferent traits, such as blue, brown or hazel eye
color.
An organism's genotype is its set of alleles (i.e. Its genetic makeup). Observable traits in
an organism are its phenotype. If an organism receives two copies of the same allele
then this organism is homozygous at this gene locus. If an organism receives two
different alleles of a given gene then it is heterozygous at this gene locus. When
Organisms are heterozygous at a gene locus, often one allele is called dominant as
it s qualit ies dominate the phenotype o f the organism, while the other allele is called
recessive as its qualit ies recede and are not observed. For example, in humans the
allele for brown eyes (indicated by b) is do minant over the blue allele (indicated by
b). Therefore, bb homozygotes and bb heterozygotes express a brown-eyed phenotype while bb
18
ho mozygotes express a blue-eyed phenotype. Co-dominance also occurs where the

contribut ions of both alleles (in heterozygous individuals) are visible in the
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phenotype of an organism.

VSUPGC, KAVALI 2018
The Hardy-Weinberg principle states that both allele and gene type frequencies in a
populat ion remain constant from generat io n to generat ion assuming certain condit io ns
are met.
Requirements for Hardy-Weinberg Equilibrium:
1. Very large populat ion size
2. No gene flow (no movement of genet ic material between populat ions)
3. No mutatio ns
4. Random mat ing
5. No natural select ion
The Hardy-Weinberg equat ion can be found below.
HOW DO POPULATION SIZE AND NATURAL SELECTION INFLUENCE

GENE FREQUENCIES?
EXERCISE 1: Modeling Genet ic Drift
1. Select 10 toothpicks to represent a populat ion of 10 animals.
2. Place 50 dark-colored beads and 50 light-colored beads into a beaker. These

represent genes in a gamete pool with allelic frequencies 0.5 A (p) and 0.5 a (q). Stir up the beads
to ensure random genet ic recombinat io n.
3. Calculate expected frequencies of AA, Aa, and aa individuals, based on

Hardy-Weinberg expectations. Mult iply these expected frequencies by 10 and round
off to the nearest whole numbers to calculat e how many AA, Aa and aa individuals
to expect in your populat ion. Record these numbers in DATA TABLE
p+ql
p 2 +2pq+q 2 =1
Where p = the frequency o f allele A

q = the frequency o f allele a
Therefore, the frequency of AA individuals is p2, the frequency of aa individuals is q2 and the
frequency of Aa individuals is 2pq.
4. Wit hout looking at the beaker, draw out two beads and slip them o nto a
toothpick. If you draw two dark beads, this animal has genotype AA. Two light beads
mean aa. One of each means Aa. Repeat this process, placing two beads on each o f the
10 toothpicks. How do your actual genotypic frequencies co mpare to the expected
19
frequencies calculated in step 3? Can you explain the reaso n for any discrepancies?
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5. DATA TABLE 1: Exercise 1- Expected and observed genotypic frequencies

VSUPGC, KAVALI 2018
Generation Frequency of AA Frequency of Aa Frequency of aa
Expected Observed Expected Observed Expected Observed
1 (initial
generation)
2
3
4
5
6
7
8
9
6. 10
6. Calculate gene frequencies in your populat ion by count ing "genes" in yo ur

populat ion of 10 animals: p = fA) = (# dark beads)/20, and q = fa) = (# light beads)/20.
Record your results for p and q in DATA TABLE 2.
DATA TABLE 2: Exercise 1- Gene frequencies
Generation (f)A p (f)a =q
1 (initial 0.5 0.5

generation)
2
3
4
5
6
7
8
9
10
20
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VSUPGC, KAVALI 2018
5. Take all of the beads off your 10 toothpicks, and generate a new gamete
pool by changing the ratio of light and dark beads in t he beaker to match the p and
q values you calculate in step 5. Keep the size of the gamete pool constant at 100
beads, but take out or put in beads to create the correct proportions. For example,
if your populat ion has values p = 0.55 and q - 0.45, you would fill the beaker wit h
55 dark-colored beads and 45 light-co lored beads. Since you started with 50 of
each, return all beads to the beaker, then take out five light-colored beads and
replace them wit h five dark-co lored ones to make a new p = 55/100 and q =
45/100.
6. Repeat steps 4 through 6 a total of 10 times to simulate 10 generations of genetic

drift. Record p and q values on the calculat ion page each t ime you recalculate
them. Since departures from original gene frequencies are rando m, you cannot
predict which way genet ic drift will take yo ur small populat ion. If p beco mes
1.00, we say that the A gene has gone to fixatio n and the a gene to extinct ion.
Fixat io n of the a gene could also happen.
ASSIGNMENT: Based on this exercise answer questions 1 and 2 \
EXERCISE 2: Modeling Select ion
In this simulat ion, we will assume that a is a recessive lethal gene. It causes no
harm in heterozygotes (Aa), but is fatal to aa individuals. Rather than a random
change in gene frequency, here we will see how natural selection against one allele can make
a directional change in gene frequencies.
1. Select 10 toothpicks to represent a population of 10 animals as you did in the first

simulat ion.
2. Begin the simulation, as you did in Exercise 1, with 50 dark-colored beads and 50
light-colored beads in the beaker. These represent genes in a gamete pool wit h
allelic frequencies 0.5 A and 0.5 a. St ir up the beads to ensure rando m genet ic
reco mbinat ion.
3. Draw two beads to place on each toothpick as you did before. Look at the
result ing genotypes. In this simulat ion, assume that aa genotypes produce a fatal
genet ic illness. Since A is dominant, Aa individuals do not have this disease.
Record frequencies for all three genotypes in DATA TABLE 3 , then remove the
aa toothpicks to represent select ion against the aa genotype.
4. Calculate p and q for the surviving populat ion, record the p and q
21
values in DATA TABLE 4 (. This t ime,

Page
Genetics lab manual. M.Sc.(p) Zoology. Dr.C.V.Narasimha Murthy. Associate

Professor(contract. ) VSUPGC, KAVALI 2018
p = fA) = (# dark beads)/(all beads in surviving animals), and
q = fa) = (# light beads)/(all beads in surviving animals).
DATA TABLE 3: Exercise 2- Genotypic frequencies
Generation Frequency of AA Frequency of Aa Frequency of aa

1 (initial
generation)
2
3
4
5
6
7
8
9
10
DATA TABLE 4: Exercise 2- Gene frequencies
Generation Frequency of A (p) Frequency of a (q)

1 (initial generation) 0.5 0.5
2
3
4
5
6
7
8
9
10
5. Remove beads from toothpicks and refill the beaker with dark and light beads to
generate a gamete pooi of 100 total beads, in the proportion of p and q that you just calculated. Mix
the beads thoroughly.
6. Repeat steps 3 through 5 for 10 generat ions, record the p and q values each
22
time.
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PREPARATION OF PEDIGREE CHART
AIM: To prepare a pedigree chart and analysis o f data.
INTRODUCTION
Pedigrees are charts of family histories that show the phenotypes and family
relat io nships of the individuals. Doctors and scient ists have used pedigrees to study
human genet ics long before the techno logy existed to sequence DNA. A family history is
taken and a family tree is constructed. Family members that have the trait of interest are
marked, which allows the invest igator to fo llow the trait through the family and determine
the pattern of inherit ance. Pedigrees use a standardized set of basic shapes to convey
informat ion and don't require writ ing. This means that pedigrees do not rely on any single
language and are readable by anyone who knows what the symbo ls mean.
PRINCIPLE:
A Pedigree result s in the presentat ion o f family informat io n in the form o f an easily
readable chart. Pedigrees use a standardized set of symbo ls, squares represent males and
circles represent females. Pedigree construction is a family history, and details about an
earlier generat ion may be uncertain as memo ries fade. If the sex o f the person is unknown
a diamo nd is used. Someone wit h the phenotype in quest ion is represented by a filled-in
(darker) symbol. Heterozygotes, when identifiable, are indicated by a shade dot inside a
symbo l or a half-filled symbol.
Relat ionships in a pedigree are shown as a series of lines. Parents are connected by
a horizontal line and a vert ical line leads to their offspring. The offspring are connected by
a horizo ntal sib ship line and listed in birth order from left to right. If the o ffspring are
twins then they will be connected by a triangle. If an o ffspring dies then it s symbo l will be
crossed by a line. If the offspring is st ill born or aborted it is represented by a small
triangle.
Each generat ion is ident ified by a Roman numeral (I, II, III, and so on), and each
individual wit hin the same generat ion is ident ified by an Arabic number (1, 2, 3, and so
on). Analysis of the pedigree using the principles of Mendelian inheritance can determine
whether a trait has a dominant or recessive pattern of inheritance. Pedigrees are often
constructed after a family member afflicted with a genet ic disorder has been ident ified.
This individual, known as the probe and, is indicated on the pedigree by an arrow.
PROCEDURE
A pedigree is a chart of the genet ic history of a family o ver several generat io ns
1. Males are represented as squares, while females are represented as circles
2. Shaded symbo ls mean an individual is affected by a condit io n, while an unshaved
symbol means they are unaffected
3. A horizontal line between man and woman represents mat ing and result ing children
23
are shown as offshoots to this line

4. Generat ions are labeled wit h roman numerals and individuals are numbered
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according to age (oldest on the left)

Determining Autosomal Inheritance
Dominant and recessive disease condit io ns may be ident ified only if certain patterns occur
(otherwise it cannot be confirmed)
Autosomal Dominant
1. If both parents are affected and an offspring is unaffected, the trait must be
dominant (parents are both heterozygous)
2. All affected individuals must have at least one affected parent
3. If both parents are unaffected, all o ffspring must be unaffected (ho mozygous
recessive)
Autosomal Recessive
1. If both parents are unaffected and an offspring is affected, the trait must be
recessive (parents are heterozygous carriers)
2. If both parents show a trait, all o ffspring must also exhibit the trait (ho mozygous
recessive)
Determining X-Linked Inheritance

It is not possible to confirm sex linkage from pedigree charts, as autosomal traits could
potent ially generate the same result s
However certain trends can be used to confirm that a trait is not X-linked do minant
or recessive
X-linked Dominant
1. If a male shows a trait, so too must all daughters as well as his mother
2. An unaffected mother cannot have affected sons (or an affected father)
3. X-linked dominant traits tend to be more commo n in females (this is not sufficient
evidence though)
X-linked Recessive
1. If a female shows a trait, so too must all so ns as well as her fat her
2. An unaffected mother can have affected sons if she is a carrier (heterozygous)
3. X-linked recessive traits tend to be more commo n in males (this is not sufficient
evidence though)
Determining Inheritance from Pedigree Charts
24
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Symbols Used in Pedigree Chart
25
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Modes of inheritance
1. Autosomal dominant
If one or both parents are affected and transmit the disease to children then it ’s
DOMINANT but there are two possibilit ies whether X-linked Dominant or
Autosomal Dominant.
How to determine?
Rule 1: If male transmits the disease to son then it can’t be X-Linked
Example: In the given pedigree
1. One or both Parents are affected? – Yes - So it’s do minant.
2. Does father transmit the disease to son? – Yes – so it cannot be X-Linked
26
Hence it s autosomal dominant

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2. Autosomal Recessive
If both parents are not affected and children are affected then it’s Recessive but
there are two possibilit ies whether X-linked recessive or Autosomal recessive.
How to determine?
To determine x-linked follow Rule 1 - "If male transmits the disease to son then it
can’t be X-Linked". If it is applied then it is X-linked recessive otherwise
autosomal recessive.
Example: In this pedigree
1. Is there any parent not affected and children are affected? Yes – so it
is recessive.
2. Rule 1 is applied completely? No – so it is Autosomal recessive
3. X-Linked Dominant:
If one or both parents are affected and transmit the disease to children then it ’s
DOMINANT but there are two possibilit ies whether X-linked Dominant or
Autosomal Dominant.
How to determine?
If affected male transmits the disease to daughter and affected female transfer to
son then it is x-linked dominant. Also, the male should not transmit to son.
1. One or both Parents are affected? – Yes - So it’s dominant
27
2. Does father transmit the disease to son? - No

3. Does mother transmit the disease to son? - Yes
Page
4. Does father transmit the disease to daughter? - Yes

Hence it ’s an X-Linked dominant.
4. X-Linked recessive:
If both parents are not affected and children are affected then it’s Recessive but
there are two possibilit ies whether x-linked recessive or Autosomal recessive.
How to determine?
If only male children are affected. Then it ’s X-linked Recessive otherwise
Autosomal recessive.
1. Are parents not affected? yes
2. Only male children are affected? yes
Hence it ’s an X-linked recessive
5. Y-Linked inheritance
When affected father transmits the disease only to all sons (not to daughter). Then
it ’s Y-linked inheritance.
How to determine?
Affected male transmits the disease to all male children but not to daughter.
28
1. Is Father affected? – yes

2. Does father transmit the disease to all children? yes
Page
Hence it ’s a Y-linked inheritance.
How to read pedigree?
Simple rules:
Rule: 1.First look for X-Linked or not?
1. Male transmits the disease to female
2. Female transmit s the disease to male
3. Male should not transmit to male
Then it ’s x-linked.
Rule: 2. Look for Dominant or Recessive?
1. One or both parents are affected and transmit the disease to children – Do minant
If male transmit s to male – Autosomal Do minant Otherwise X-linked do minant.
1. Parents are not affected but children are affected – Recessive
Rule: 3. Look for Y-Linked?
1. Affected male transmit s the disease to all male children but not to daughter then it
is Y-linked inheritance.
Let’s see an example and apply above rules
Rule 1. X-Linked or not?
1. Male transmits the disease to female - yes
2. Female transmit s the disease to male - yes
3. Male does not transmit the disease to male – No
One sub-rule C of rule1 is “No” so it is not X-linked
Rule 2. Dominant or Recessive?
One or both parents are affected and transmit the disease to children – Yes – so it’s
dominant
If male transmit s to male – yes – so it’s Autosomal Dominant
Parents are not affected but children are affected – No – so it is not recessive.
Rule 3. Look for Y-Linked?
No! So answer is “ Autosomal Dominant”
29
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PEDIGREE ANALYSIS: PRACTICE
PROBLEMS
Q1. Identify the inheritance pattern in the following picture.
The above pedigree is Autosomal recessive.
• Recessive because there is skipping of generatio n.

• Autosomal recessive because, it does not fulfill
X-linked recessive condit ion.
For X-linked recessive, following condit io ns must be

fulfilled:
1. More boys affected than girls

2. Female does not affect female
3. Affected mom has to have affected
sons as well as dad
Q2. Identify the mode of inheritance.
The above pedigree is X-linked dominant

because of the following reasons:
1. Dominant because there is no skipping

of generation.
2. X-linked dominant condition must follow DDD rule (the first D represents
dominant condition; the second D represents affected D; the third D represents
daughters).
It means, in a dominant condition, if dad is affected, all his daughters will be affected
too.
The above pedigree follows DDD rule
Q3. Identify the mode of inheritance.

30
Autosomal dominant
Page
No DDD rule followed in the above pedigree

Q4. Identify the pattern of inheritance.
Autosomal recessive
No X-linked recessive condition followed.
Q5. IDENTIFY THE PATTERN OF

INHERITANCE.
X-linked recessive
Followed X-linked recessive condition.
It is recessive because two unaffected

parents produced affected offspring -- a
characteristic of recessive trait.
Q6. Find the pattern of

inheritance in the following
pedigree and write the genotype
of III 7
31
Page
Q7. Find the pattern of inheritance and the genotype of the parents
EXERCISE ON MONOHYBRIDE CROSS

(MENDELIAN GENETICS)
PROBLEM 1
In Coleus, some plants have shallo wly crenated edges and others have deeply incised
leaves. A cross is made between ho mozygous deep and shallow individuals. The
shallow trait is do minant.
a. Using S and s to symbo lize the genes for this trait, give the
phenotypic and genotypic rat ios for the F1 generat ion.
ANSWAR
SS x ss Shallow deep
genotypic = all Ss phenot ypic = all shallow
b. If self pollinat ion is allowed, what is the phenotyp ic rat io for

the F2 generat ion?
ANSWAR
F2 Genot ypic = 1 : 2 : 1 or 1/4 SS: 1/2 Ss: 1/4 ss
Phenot ypic = 3 : 1 or 3/4 shallo w; 1/4 deep
PROBLEM 2
. The abilit y to taste a bitter chemical, phenylt hio carbamide (PTC), is due to a
dominant gene. Use T and t to symbo lize the two alleles o f this gene.
a. What is the genotype of a nontaster? What are the possible

32
genotypes of a taster?
Page
ANSWER
TT or Tt
b. Could a person wit h two tasters as parents be a non-taster? How?
ANSWER
Yes, if both his and her parents were heterozygous.
PROBLEM 3
. A woman heterozygous for polydact yly (extra fingers and toes), a dominant
trait, is married to a normal man. What is the probabilit y o f producing an
offspring that has extra fingers or toes?
ANSWER = 50%
PROBLEM 4
Parents who do not have Tay Sachs disease produce a child who has this
terrible afflict ion. What are the chances that each child born of this unio n will
be affected?
ANSWER = 25%
PROBLEM 5
In human beings, abilit y to curl the tongue into a U-shaped trough is a heritable
trait. "Curlers" always have at least one curler parent, but "noncurlers" may
occur in families where one or both parents are curlers. Using C and c to
symbolize this trait, what is the genotype of a noncurlers?
ANSWER = cc
PROBLEM 6
Albinism, the total lack of pigment, is due to a recessive gene. A man and wo man
plan to marry and wish to know the probability of their having any albino children. What are
the probabilit ies if:
a. both are normally pigmented, but each has one albino parent.
ANSWER : 25%
b. the man is an albino, the girl is normal, but her father is an albino.
ANSWER : 50%
c. the man is an albino and the girl's family includes no albino s for at least
three generat ions.
ANSWER : Probably zero: the girl's family history suggests that she is
33
ho mozygous normal
Page
PROBLEM 7
In a certain plant, both purple x purple and purple x blue yield purple and blue
colored progeny, but blue x blue gives rise only to blue.
a. What does this tell you about the genotypes of blue- and purple-flowered plants?
ANSWER: Purple is heterozygous; blue is ho mozygous
b. Which gene is do minant?

ANSWER: Purple
PROBLEM 8
Two short-haired female cats are mated to the same lo ng-haired male. Several litters
are produced. Female No. 1 produced eight short-haired and six lo ng-haired kittens.
Female No. 2 produced 24 short-haired ones and no long-haired. Fro m these
observat ions, what deduct ions can be made concerning hair-lengt h inheritance in these
animals? Assuming the allelic pair S and s, give the likely genot ypes of the two female
cats and the male.
ANSWER :Short hair is the dominant trait. Genotypes: Female No. 1 is Ss; Female
No. 2 is SS; the male is ss.
PROBLEM 9
In human beings, a downward po inted frontal hairline ("widow's peak") is a
herit able trait. A person wit h a widow's peak always has at least one parent who also
has this trait, whereas persons wit h a straight frontal hairline may occur in families
in which one or even both parents have widow's peak. When both parents have a
straight frontal hairline, all children also have a straight hairline. Using W and w to
symbolize genes for this trait, what is the genot ype o f an individual wit hout
widow's peak?
ANSWER ww - ho mozygous recessive
PROBLEM 10
Rh negat ive children (those not producing rhesus ant igen D) may be born to
either Rh posit ive or Rh negat ive parents, but Rh posit ive children always have
at least one Rh posit ive parent. Which phenotype is due to a dominant gene?
ANSWER Rh+ is dominant.

34
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EXERCISES ON DYHYBRID CROSS
1. In the fruit fly Drosophila melanogaster, vest igial wings and hairy body are
produced by two recessive genes located on different chromoso mes. The normal
alleles, long wings and hairless body, are dominant. Give the genotype and
phenotype of F1 progeny
obtained from a cross between a vest igial-winged, hairy male and a normal,
ho mozygous female. If the F1 fro m this cross are permitted to mate rando mly
amo ng themselves,
what phenotypic rat io would be expected in the F2 generat ion?
ANSWER
The genes may be symbolized as:
v = vest igial h = hairy body
V = long wing H = hairless body
The genot ypes of the parents are: Male 3 tall : 1 short

vvhh, Female VVHH. 3 smooth : 1 wrinkled
One hundred percent of the F1 will be
9 tall, smooth : 3 short, smooth: 3 tall,
VvHh (normal long wing, hair less body).
wrinkled : 1 short, wrinkled
The F2 phenot ypic rat io is 9 normal long
wing, hairless body; 3 vest igial wing, hairless body; 3 normal lo ng wing, hairy
body; 1 vest igial wing, hairy body. This can be obtained by mult ip lying the two
phenotypic rat ios times one another.
The phenotypic ratio for wings is 3 normal long : 1 vest igial. The phenot ypic rat io
for hair is 3 hairless : 1 hairy. Since the two traits segregate independent ly -
3:1
3:1
9:3:3:1
2. In peas, a gene for tall plants (T) is do minant over its allele for short plants (t). The
gene for smooth peas (S) is do minant over its allele for wrinkled peas (s). The genes
are not linked. Calculate both phenotypic and genot ypic rat ios for the result s of
each of the following crosses:
a. TtSs x TtSs b. Ttss x ttss c. ttSs x Ttss d. TtsSS x ss
ANSWER
Q GENOTYPE PHENOTYPE
NO
35
A TtSs1TT : 2Tt : 1tt 3 tall : 1 short

X 1SS : 2Ss : 1ss 3 smooth : 1 wrinkled
Page
TtSs1TTSS : 2TtSS : 1ttSS 9 tall, smooth : 3 short, smooth: 3

tall, wrinkled : 1 short,
wrinkled
2TTSs : 4TtSs : 2 ttSs short, 3 tall : 1 short
smooth 1TTss : 2Ttss : 1 ttss
B Ttss x 1 tall : 1 short
ttss 1Tt : 1tt
1ss ______ all wrinkled
1Ttss : 1ttss 1 tall, wrinkled : 1 short,
wrinkled
C ttSs x
Ttss 1tt : 1Tt 1 tall : 1 short
1Ss : 1ss 1 smooth : 1 wrinkled
D TtsSS 1Tt 1Ss 1TtSs
x ss All tall
1Tt 1Ss 1TtSs All smooth
1Tt 1Ss 1TtSs All tall, smooth
3. In a part icular species of flower, tall is do minant too short, and orange petals are
dominant to the recessive white co lor. Use T and t to symbo lize the alleles for
height, and F and f
to symbolize the alleles for flo wer co lor. A ho mozygous tall white flower is
crossed wit h a flower heterozygous for both traits. List the genotypes o f the
parents. What are the F1 genotypic and phenotyp ic rat ios?
ANSWER
The parental genotypes are: TTff x TtFf
The F1 genotypic rat io is: 1 : 1 : 1 : 1
The F1 phenotypic rat io is: 1 : 1
4. How many phenotypic classes are produced by a dyhybride test-cross where one
parent is heterozygous for both pairs o f genes?
ANSWER
Four. For example: CcBb x ccbb ---
1. Cc Bb
2. Cc bb
3. cc Bb
4. cc bb
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5. In hogs, an allele that produces a white belt around the animal's body (W) is
dominant over its allele for a uniformly colored body (w). The do minant allele of
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another gene (F) produces a fusion of the two hoofs on each foot. Suppose a
uniformly-colored hog homozygous for fused hoofs is mated wit h a normal-footed
hog homozygous for the belted character.
a. What are the genotypes o f the parents?

ANSWER: The parental genot ypes are: ww FF x WW ff
b. What are the genotypic and phenotypic rat ios of the F1?
ANSWER = All the F1 's are WwFf (whit e belted wit h fused hoofs)
c. If the F1 were allowed to interbreed, what are the genot ypic and phenot ypic
ratios of the F2?
ANSWER
The genot ypic rat io is:
1:2:1:2:4:2:1:2:1 The
phenotypic rat io is: 9:3:3:1
6. In watermelons, the genes for green co lor and for short length are do minant over
their alleles for striped color and for lo ng length. Suppose a plant wit h lo ng striped
fruit is crossed wit h a plant heterozygous fo r both of these characters. What
phenotypes would this cross produce and in what ratios?
ANSWER :1 green short: 1 green lo ng: 1 striped short: 1 striped lo ng
EXERCISES ON RECOMBINATION
1. In Drosophila melanogaster, there is a dominant gene for gray body co lor and
another dominant gene for normal wings. The recessive alleles o f those two genes
result in black body co lor and vest igial wings, respect ively. Flies homozygous for
gray body and normal wings were crossed wit h flies that had black bodies and
vest igial wings. The F1
progeny were then test-crossed, with the following result s:
Gray body, normal wings 236
Black body, vest igial wings 253
Gray body, vest igial wings 50
Black body, normal wings 61
Would you say that these two genes are linked? If so, how many units apart are they
on the chromosome?
ANSWER
The Po cross is BBVV x bbvv.

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The F1 test cross is: BbVv x bbvv.

If unlinked, the F2 phenotypic rat io should be 1:1:1:1. It is not, so the two genes are
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on the same chromosome.

The two smallest F2 phenotypic classes are reco mbinants. Since map distance is
defined as #Recombinants/total X 100, 111/600 x 100 = 18%.
2. A series of dyhybride test crosses gives the fo llowing crossover frequencies: A-B,
3%, A-C, 13%; B-C, 10%
a) What is the gene sequence?
ANSWER : A B C
b) Another cross gives a frequency o f 19% for A-D. Can you locate the posit ion o f
D in the sequence?
ANSWER: not with this informat ion alone
c) If the crossover for C-D is found to equal 6%, where would gene D be located?
ANSWER: Furthest away from A (i.e., A B C D)
3. In the nematode Caenorhabditis elegans, dpy-18 and unc-32 are recessive alleles
which confer the phenotypes of a dumpy body and uncoordinated movement,
respect ively. A test cross is performed, and yields the fo llowing progeny:
Phenot ype # Progeny

Dpy Unc 409
Wild t ype 391
Dpy 106
Unc 93
Are the genes linked? If so, how many unit s apart are they on the chro moso me?
ANSWER
The genes are linked; otherwise the phenotypic rat io would be 1:1:1:1. Dpy and
Unc are the smallest, and hence reco mbinant, classes. Therefore, 200/1000 x 100
= 20% or 20 map unit s.
4. In the same organism, dpy-5 and unc-4 are another set of recessive alleles which
confer the same properties. A similar test cross is performed.
Phenot ype # Progeny

Dpy Unc 243
Wild Type 251
Unc 247
Dpy 249
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Are the genes linked? If so, how many unit s apart are they on the chro moso me?
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ANSWER: The genes are not linked

EXERCISES ON MODIFICATIONS OF COMPLETE DOMINANCE AND
INCOMPLETE DOMINANCE
1. The so-called "blue" (really gray) Andalusian variet y o f chicken is produced by a

cross between the black and white variet ies, both of which breed true (i.e., both
are homozygous). What color chickens (and in what proportions) would you
expect if you crossed two blues? a blue and a black?
ANSWER: The genotypes of the black and white may be represented as BB and bb,
respect ively. A "blue" chicken has the geno type Bb. Crossing two blues would
produce 1/4 black, 1/2 blue, and 1/4 white. Crossing a blue and a black would
produce 1/2 blue and 1/2 black.
2. In four o'clock, red color exhibit s inco mplete dominance over whit e; when both
exist together, the flowers are pink.
a. In a cross between a red flower and a white one, what is the genotype of
the offspring?
ANSWER: If the parental genotypes are RR and rr, the offspring
would be Rr
b. What is the genotypic rat io of the F2 generation if two of the F1 fro m (a) are
crossed?
ANSWER: 1 RR : 2 Rr : 1 rr
c. List the genotypes of offspring produced by a cross between the F1 generat io n

and red parent.
ANSWER: 1 RR : 1 Rr
3. It has long been known in the field of human genet ics that wavy hair is the
expression of a heterozygous genotype in which the allele for straight hair is paired
with the allele for curly hair. Lucinda Love lee married Larry Legg. Both of these
charmers have wavy hair. What is the probabilit y that their o ffspring, the litt lest
Legg, will have:
Answer
a. wavy hair? 50%
b. curly hair? 25%
c. straight hair? 25%
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4. If pale colored horses are crossed wit h chestnut-colored horses to produce

"palomino", an intermediate coat color:
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a. What t ype of expression is suggested?

Answer: incomplete dominance
b. A number of mat ings between palo minos produced 19 pale, 21 chestnut, and
44 palominos. Does this evidence support or contradict your answer to (a)?
Why?
Answer: We suspect palo mino s to be heterozygous. If they are crossed, a
1:2:1 ratio should result. It does, which supports our answer.
EXERCISES ON CODOMINANCE
1 .For each of the following pairs of parental genotypes, calculate the phenotypic ratios
for the F1 generat ion.
ANSWER
A A
a. I I x ii 100% A
b. I A I A x I A I B 50% A; 50%AB
c. I A I A x IBi 50% AB 50%A
d. IAi x IAi 100% A
e. I A I A x IAi 75% A, 25% O
f. IAi x I A I B 50% A, 25% AB, 25% B
g. IAi x ii 50% A, 50% O
2. If Mr. and Mrs. Fecundit y, both having blood type B, have 12 children, 3/4 of
who m are type B and 1/4 of who are O, what are the genot ypes of the parents?
ANSWER: IBi x IBi
3. A family of six includes four children, each of who m has a different blood type:
A, B, AB and O. What are the genotypes o f parents for this trait?
ANSWER : Parents must be IAi and IBi
4. A man wit h blood type B, wit h one parent of blood type O, marries a wo man wit h
blood type AB. What will be the theoretical percentage of their children wit h blood
type B?
ANSWER : 50%. The parental genot ypes are: IBi x I A I B

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5. Mrs. Smit h and Mrs. Doe were roommates at Harris Hospital and both had
daughters at about the same t ime. After Mrs. Smit h took Susie ho me, she became
convinced that the babies had been swit ched. Blood tests were performed with the
following result s: Mr. and Mrs. Smit h were both Type AB;
Mr. and Mrs. Doe were both t ype A;
Susie Smit h was t ype A and Debbie Doe was type O.
Had a switch occurred?
ANSWER
Mr. and Mrs. Smit h must both have genot ypes I A I B . Mr. and Mrs. Smit h could not
Have given birth to Debbie Doe - Type O. A switch had not occurred.
6. Mortimer has t ype B blood. His wife Murgatroyd is unsure o f her blood type. If
their first child, Magnifica, is type B, their second offspring, Maximum, is AB and the twins,
Maud and Lyn, are A, can you determine the genot ypes of Mort and Murg?
ANSWER: Mortimer is I B i. Murgatroyd is eit her IAi or I A I B .
7. In a well-publicized paternit y case, the fo llo wing facts were unearthed; the mother,
a strikingly beaut iful, twice-co nvicted axe murderess, is blood type A, her child,
Lizzie, is t ype O, and the alleged father, a mild-mannered felo n, is t ype B. Could he
be the father? Explain. Is there any chance that litt le Lizzie, the "Bad Seed", will
grow up to be a missionary lady?
ANSWER
The mother may be I A i, while the father is I B i. Consequent ly, there would be a 25%
chance of the child being t ype O. Criminal behavior has never been found to be
correlated with chromosomal inheritance. Wit h the proper enviro nment, Little
Lizzie could turn out to be an angel.
EXERCISES ON LETHAL ALLELES
1. Cyst ic fibrosis is caused by a recessive lethal gene and can be detected by an excess
concentration of chloride in sweat. If a sweat test reveals a man to be heterozygous
and his wife to be homozygous normal, what are the chances that their children will have the
disease? Could any o f their grandchildren have the disease?
ANSWER
None o f the their children will have cyst ic fibrosis. Their grandchildren could have the
disease if the heterozygous children marry other heterozygotes.
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2. In humans, sickle-cell anemia is caused by a recessive let hal allele Hb s ; individuals who
are Hb a Hb s have sickle-cell trait, but are healthy.
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a. What is t he probabilit y o f two heterozygous individuals giving birth to a child
with sickle-cell trait ?
ANSWER : Hb a Hb s 50%
b. What is t he probabilit y o f two heterozygous individuals giving birth to a child

with sickle-cell anemia?
ANSWER : Hb s Hb s 25%
c. If a normal Hb a Hb a individual receives a blood transfusio n fro m a Hb a Hb s

individual (heterozygous for sickle cell) what are the chances that the Hb a Hb a
man and his Hb a Hb a wife will have Hb a Hb s children?
ANSWER : 0: the genot ype is not affected by the blood transfusio n
3. Albinism in corn plants is caused by a recessive lethal gene that results in death
before maturit y. What will the adult phenotypic rat io be for the F1 generat ion o f
heterozygous
parents?
ANSWER : All adult F1 will be green, albinos die
4. Hunt ington's chorea is a dominant lethal in humans. The disease does not appear
unt il later in life, so that afflicted individuals may already have produced
children. What are the F1 genotypic and phenotyp ic rat ios of parents who are
ho mozygous dominant and
heterozygous?
ANSWER
Genotypic rat io: 1 homozygous dominant: 1 heterozygote Phenotypic rat io: All F1
will have Hunt ington's chorea.
EXERCISES ON SEX-LINKED GENES
1. Red-green color blindness is inherited as a sex-linked recessive. If a co lor-blind

woman marries a man who has normal visio n, what would be the expected
phenotypes of their children wit h reference to this character?
ANSWER : All girls are normal, but carriers. All bo ys are co lor-blind.
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2. Suppose that gene b is sex-linked, recessive, and embryo nic lethal. A man
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marries a woman who is heterozygous for this gene. If this couple had many
normal children, what would be the predicted sex ratio of these children?
ANSWER : Two-thirds female: one-third male.
3. A man and his wife both have normal co lor visio n, but a daughter has red-green
color blindness, a sex-linked recessive trait. The man sues his wife for divorce on grounds of
infidelit y. Can genet ics provide evidence supporting his case?
ANSWER:
A co lor-blind girl could only be the result of a union of (a) a mother wit h
normal vision but a carrier (X o X), wit h a colorblind male (X o Y); or (b) a
spontaneous mutation of the X chro moso me handed down by the father. The
smart money goes for (a).
4. In the mouse, the dominant sex-linked gene B results in a short, crooked tail. Its
recessive allele b produces a normal tail. If a normal-tailed female is mated wit h a
bent-tailed male, what phenotypic rat io should occur in the F1 generat ion?
ANSWER: One normal male: one bent female.
5. In cats, a gene for coat color is sex-linked. Cats ho mozygous for allele A have
yellow coats; those homozygous for allele a have black coats; and heterozygotes
have tortoise-shell coats. What type(s) of offspring would result from a mat ing o f
a black male and a tortoise-shell female? Is it possible to obtain a tortoise-shell
male?
ANSWER : 1/4 tortoise female; 1/4 black female; 1/4 yellow male; 1/4 black male.
6. On the X chromosome of Drosophila there may occur a recessive gene l, which is

lethal in the larval stage. A heterozygous female is crossed to a normal male; what
F1 adult sex phenotypic rat io results?
ANSWER : Two normal females: 1 normal male (male wit h lethal dies.
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GENETIC DISORDERS
Human Karyot ype
1. The human karyot ype contains 22 pairs of autosomal chromosomes and a pair of sex
chromoso mes.
2. The normal karyot ype for a female co ntains a pair of X chromosomes, whereas the
normal karyot ype for a male co ntains an X and a Y chromoso me [1 ] .
3. Variat ions in the human karyotype can lead to genetic disorders. These can be sex
linked disorders such as Klinefelt er's Syndrome or Turner syndro me. These have
the genotypes 47 XXY and 45 XO respect ively, and cause infert ilit y as well as
changes in appearance.
4. When a Y chromosome is present, the person always primarily appears male.
5. Triso mies can also occur such as Down's Syndro me (trisomy 21) or Edwards
Syndrome (trisomy 18). A triso my is where three of o ne chro moso me is present in
the karyot ype. Trisomies tend to occur in smaller chro moso mes because the cell is
more able to deal wit h the extra mass.
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CYSTIC FIBROSIS
1. Every person has two copies o f the cyst ic fibrosis transmembrane conductance
regulator (CFTR) genes
2. People who inherit one copy o f the CFTR gene that contains a mutation and one
normal copy are considered CF carriers. CF carriers do not have the disease but can
pass their copy o f the defect ive gene on to their children.
3. Cyst ic fibrosis is caused by mutations in the gene that produces the cyst ic fibrosis
transmembrane conductance regulator (CFTR) protein.
4. This protein is responsible for regulat ing the flow of salt and fluids in and out of the
cells in different parts of the body.
5. Mutations in the CFTR gene cause t he CFTR protein to malfunct io n or not be made
at all, leading to a buildup of thick mucus, which in turn leads to persistent lung
infect ions, destruction of the pancreas, and complicat ions in other organs.
6. Cystic fibrosis is an example of a recessive disease. That means a person must have a mutation
in both copies of the CFTR gene to have CF. If someone has a mutation in only one copy of the
CFTR gene and the other copy is normal, he or she does not have CF and is a CF carrier. About
10 million people in the United States are CF carriers.
7. CF carriers can pass their copy of the CFTR gene mutation to their children. Each time two CF
carriers have a child together, the chances are:
8. 25 percent (1 in 4) the child will have CF
9. 50 percent (1 in 2) the child will be a carrier but will not have CF
10. 25 percent (1 in 4) the child will not be a carrier of the gene and will not have CF
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DIABETICS
1. Tyype 2 diabetes has several causes: genet ics and lifest yle are the most important
ones. A combinat ion of these factors can cause insulin resistance, when your bo d y
doesn’t use insulin as well as it should. Insulin resistance is the most common cause
of t ype 2 diabetes.
2. Fatigue: Your body isn’t getting the energy it needs from the food you’re eating, so you may
feel very tired.
3. Extreme thirst: No matter how much you drink, it feels like you’re still dehydrated. Your
tissues (such as your muscles) are, in fact, dehydrated when there’s too much glucose (sugar) in
your blood. Your body pulls fluid from the tissues to try to dilute the blood and counteract the
high glucose, so your tissues will be dehydrated and send the message that you need to drink
more. This is also associated with increased urination.
4. Frequent urination: This is related to drinking so much more in an attempt to satisfy your
thirst. Since you’re drinking more, you’ll have to urinate more. Additionally, the body will try
to get rid of the excess glucose through urination.
5. Extreme hunger: Even after you eat, you may still feel very hungry. That’s because your
muscles aren’t getting the energy they need from the food; your body’s insulin resistance keeps
glucose from entering the muscle and providing energy. Therefore, the muscles and other
tissues send a “hunger” message, trying to get more energy into the body.
6. Infections: The effects of type 2 diabetes make it harder for your body to fight off an infection,
so you may experience frequent infections. Women may have frequent vaginal (yeast) and/or
46
bladder infections. That’s because bacteria can flourish when there are high levels of glucose
in the blood.
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HUNTING DISEASE
1. Huntington's disease (HD), also known as Huntington's chorea, is an inherited

disorder that results in death of brain cells The earliest sympto ms are often subt le
problems wit h mood or mental abilit ies A general lack o f coordinat io n and an
unsteady gait often follow. As the disease advances, uncoordinated, jerky body
mo vements beco me more apparent Physical abilit ies gradually worsen unt il
coordinated movement becomes difficult and the person is unable to talk. Mental
abilit ies generally decline into dement ia
2. All humans have two copies of the Hunt ingtin gene (HTT), which codes for the
protein Hunt ingt in (HTT). The gene is also called HD and IT15, which stands for
'int erest ing transcript 15'. Part of this gene is a repeated sect io n called a
trinucleot ide repeat, which varies in lengt h between individuals and may change
length between generat ions
3. If the repeat is present in a healt hy gene, a dynamic mutation may increase the
repeat count and result in a defect ive gene. When the length o f this repeated sect io n
reaches a certain threshold, it produces an alt ered form of the protein, called mutant
Hunt ingt in protein (mHTT).
4. The differing funct ions of these proteins are the cause o f patho logical changes
which in turn cause the disease symptoms.
5. The Hunt ington's disease mutatio n is genet ically do minant and almo st fully
penetrant: mutat ion of eit her o f a person's HTT alleles causes the disease. It is not
47
inherit ed according to sex, but the length of the repeated sect ion o f the gene and
hence its severit y can be influenced by the sex o f the affected parent.
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HYPER TRYCHOSIS
1. Hypertrichosis is an abnormal amount of hair growth over the body.

2. The two dist inct types of hypertrichosis are generalized hypertrichosis, which
occurs over the ent ire body, and localized hypertrichosis, which is restricted to a
certain area. Hypertrichosis can be eit her congenital (present at birth) or acquired
later in life.
3. The excess growth of hair occurs in areas of the skin wit h the except io n of
androgen-dependent hair o f the pubic area, face, and auxiliary regions.
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KLENFEKTER SYNDROME
1. Klinefelter’s syndrome is a chromosomal condit ion that affects male physical and
cognit ive development. Its signs and symptoms vary amo ng affected individuals.
2. Affected individuals t ypically have small testes that do not produce as much
testosterone as usual.
3. Testosterone is the hormone that directs male sexual development before birth and
during puberty. A shortage of testosterone can lead to delayed or inco mplete
pubert y, breast enlargement (gyneco mast ia), reduced facial and body hair, and an
inabilit y to have bio logical children (infert ilit y).
4. Some affected individuals also have genit al differences including undescended
testes (cryptorchidism), the opening of the urethra on the underside o f the penis
(hypospadias), or an unusually small penis (micropenis).
5. Older children and adult s wit h Klinefelt er’s syndrome tend to be taller than their
peers. Compared wit h unaffected men, adult s wit h Klinefelt er’s syndro me have an
increased risk of developing breast cancer and a chronic inflammatory disease
called systemic lupus eryt hematosus. Their chance o f developing these disorders is
similar to that of women in the general populat io n.
6. Children wit h Klinefelt er’s syndro me may have learning disabilit ies and delayed
speech and language development. They tend to be quiet, sensit ive, and
unassert ive, but personalit y characterist ics vary amo ng affected individuals.
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MUSCULAR DYSTROPHY
1. Muscular dystrophy (MD) is a group of muscle diseases that results in increasing

weakening and breakdown of skeletal muscles over time
2. They are due to mutations in genes that are invo lved in making muscle proteins.
3. This can occur due to either inherit ing the defect fro m one's parents or the mutat io n
occurring during early development.
4. Disorders may be X-linked recessive, autosomal recessive, or autosomal dominant.

5. Dystrophin protein is found in muscle fibre membrane; it s helical nature allows it to
act like a spring or shock absorber. Dystrophin links act in in the cytoskeleton and
dystroglycans of the muscle cell plasma membrane, known as the sarco lemma
(extracellular). In addit ion to mechanical stabilizat ion, dystrophin also regulates
calcium levels. 50
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PATUA SYNDROME
1. Triso my 13 is also called Patau syndrome, after the physician who first described
the disorder.
2. Babies wit h trisomy 13 often have a normal birth weight, a small head and a sloping
forehead. Noses are usually large ("bulbo us"), ears are low-set and unusual in
shape, eye defects occur frequent ly, and cleft lip and palate as well as heart defect s
are very common.
3. Many babies wit h trisomy 13 are born wit h small areas o f missing skin on the scalp
(cutis aplasia), which resemble ulcers.
4. The brains in babies wit h triso my 13 usually have major structural problems and
often, the brain does not divide properly int o two hemispheres, result ing in a
condit ion called holoprosencephaly.
5. Many babies wit h triso my 13 have extra fingers and toes (polydact yly). Some
present with a sac attached to the abdo men in the area of the umbilical cord
(omphalocele), which contains so me o f the abdo minal organs, as well as spina
bifida. Girls may have an abnormally shaped uterus, called a bicornuate uterus. In
bo ys, the testes somet imes fail to descend into the scrotum.
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RETTS SYNDROME
1. The first symptom of Rett syndro me is usually the lo ss o f muscle tone, called
hypotonia (pronounced hahy-poh-TOH-nee-uh). 1 Wit h hypotonia, an infant 's arms
and legs will appear "floppy."
2. Loss of ability to grasp and intentionally touch things
3. Loss of ability to speak. (Initially, a child may stop saying words or phrases that he or she once
said; later, the child may make sounds, but not say any purposeful words.)
4. Severe problems wit h balance or coordinat ion, leading to loss o f the abilit y to walk
5. Rett syndrome is due to a genet ic mutatio n of the MECP2 gene This gene occurs on
the X chro moso me. Typically it develops as a new mutatio n, with less than one
percent of cases being inherited fro m a person's parents Bo ys who have a similar
mutation typically die shortly after birth.
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DOWNS SYNDROME
1. Down syndrome (DS or DNS), also known as trisomy 21, is a genet ic disorder
caused by the presence of all or part of a third copy o f chromosome 21.
2. It is typically associated wit h physical growth delays, characterist ic facial features
and mild to moderate intellectual disabilit y.
3. The average IQ of a young adult wit h Down syndrome is 50, equivalent to the
mental abilit y o f an 8- or 9-year-o ld child, but this can vary widely.
4. The parents of the affected individual are typically genet ically normal. The extra
chro mosome occurs by chance. The possibilit y increases fro m less than 0.1% in
20-year-old mothers to 3% in those age 45.
5. There is no known behavioral act ivit y or environmental factor that changes the
possibilit y
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TAY SACCHS DISEASE
1. Tay-Sachs is a disease of the central nervous system. It is a neurodegenerat ive

disorder that most commonly affects infants. In infants, it is a progressive
disease that is unfortunately always fatal. Tay-Sachs can also occur in teens and
adults, causing less severe sympto ms,
2. People with the adult form of Tay-Sachs disease usually have these symptoms:
muscle weakness, slurred speech, unsteady gait, memory problems, tremors
3. A defect ive gene on chromoso me 15 (HEX-A) causes Tay-Sachs disease. This

defect ive gene causes the body to not make a protein called hexosaminidase A.
Wit hout this protein, chemicals called gangliosides build up in nerve cells in the
brain, destroying brain cells.
4. The disease is hereditary, which means it is passed down through families. You
have to receive two copies o f the defect ive gene — one fro m each parent — to
become affected.
5. If only one parent passes down the defect ive gene, the child beco mes a carrier.
They will not be affected, but may pass the disease down to their own children
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SICKLE CELL ANEMIA
1. Sickle-cell disease occurs when a person inherit s two abnormal copies o f the
haemoglo bin gene, one fro m each parent. This gene occurs in chro moso me 11
2. The gene defect is a known mutat ion of a single nucleotide (see single-nucleot ide
polymorphism – SNP) (A to T) of the β-globin gene, which results in glutamic acid
(E/Glu) being subst ituted by valine (V/Val) at posit ion 6.
3. Hemoglo bin S wit h this mutation is referred to as HbS, as opposed to the normal
adult HbA.
4. Several subt ypes exist, depending on the exact mutation in each haemoglo bin gene.
5. An attack can be set off by temperature changes, stress, dehydrat io n, and high
alt itude. A perso n wit h a single abnormal copy does not usually have symptoms and
is said to have sickle-cell trait. Such people are also referred to as carriers
6. vaso-occlusive crisis is caused by sickle-shaped red blood cells that obstruct
capillaries and restrict blood flow to an organ result ing in ischaemia, pain, necrosis,
and often organ damage. The frequency, severit y, and durat io n of these crises var y
considerably. Painful crises are treated with hydrat ion, analgesics, and blood
transfusio n
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TURNERS SYNDROME
1. Turner syndrome (TS), also known as 45,X or 45,X0, is a co ndit io n in which a

female is part ly or completely missing an X chromosome.
2. Often, a short and webbed neck, low-set ears, low hair line at the back o f the neck,
short stature, and swollen hands and feet are seen at birth.
3. Typically, they develop menstrual periods and breasts only wit h hormone
treatment, and are unable to have children wit hout reproductive techno logy. Heart
defects, diabetes, and low thyroid hormone occur more frequent ly. Most people
with TS have normal intelligence. Many, however, have troubles wit h spat ial
visualizat ion that may be needed for mat hemat ics. Visio n and hearing problems
occur more often
4. In the majorit y of cases where monoso my occurs, the X chro mosome co mes fro m
the mother.
5. This may be due to a nondisjunct ion in the father. Meiot ic errors that lead to the
production of X wit h p arm delet io ns or abnormal Y chro moso mes are also mo st ly
found in the father. Isochro mosome X or ring chromosome X on the other hand are
56
formed equally often by both parents Overall, the funct io nal X chromoso me usually
comes from the mother.
Page
ALBINISM
1. Albinism in humans is a congenital disorder characterized by the co mplete or

partial absence of pigment in the skin, hair and eyes
2. Albinism results from inherit ance o f recessive gene alleles and is known to affect
all vertebrates, including humans.
3. It is due to absence or defect of t yrosinase, a copper-containing enzyme invo lved in
the production of melanin. It is the opposite of melanism.
4. Unlike humans, other animals have mult iple pigments and for these, albinism is
considered to be a hereditary condit io n characterized by the absence of melanin in
particular, in the eyes, skin, hair, scales, feathers or cuticle.
57
5. While an organism wit h complete absence of melanin is called an albino an

organism wit h only a diminished amount of melanin is described as leucist ic or
Page
albinoid.
COLOUR BLINDNESS
1. Color blindness, also known as color vision deficiency, is the decreased abilit y to
see color or differences in color.
2. Males are more likely to be co lor blind than females, as the genes responsible for
the most common forms of co lor blindness are on the X chromosome.
3. As females have two X chromosomes, a defect in one is t ypically co mpensated for
by the other, while males only have one X chromosome.
4. Two of the most co mmo n inherit ed forms of color blindness are protanomaly (and,
more rarely, protanopia – the two together often known as "protans") and
deuteranomaly (or, more rarely, deuteranopia – the two together often referred to as
"deutans").
5. Both "protans" and "deutans" (of which the deutans are by far the most co mmo n) are
known as "red–green color-blind" which is present in about 8 percent of human
males and 0.6 percent of females
58
Page
TRIPLE-X SYNDROME
1. Triple X syndrome, also known as trisomy X and 47,XXX, is characterized by the

presence of an extra X chromosome in each cell of a female.
2. Usually there are no other physical differences and normal fert ilit y. Occasio nally
there are learning difficult ies, decreased muscle tone, seizures, or kidney problems.
3. Triple X is due to a random event. Triple X can result eit her during the divisio n o f
the mother's reproductive cells or during divisio n of cells during early
development.
4. It is not typically inherited fro m one generation to the next. A form where only a
percentage of the body cells contain XXX can also occur.
5. Triple X syndrome is not inherited, but usually, occurs as an event during the
format ion of reproductive cells (ovum and sperm). An error in cell divisio n called
nondisjunct ion can result in reproduct ive cells wit h addit ional chromosomes. For
example, an oocyte or sperm cell may gain an extra copy of the X chro mosome as a
result of the non-disjunct ion. If one o f these cells co ntributes to the genet ic makeup
of a child, the child will have an extra X chromoso me in each of her cells. In so me
cases, trisomy X occurs during cell divisio n in early embryo nic development.
6. Some females wit h triple X syndro me have an extra X chro moso me in only so me o f
their cells. These cases are called 46,XX/47,XXX mosaics.
59
Page
CRI-DUCHAT SYNDROME
1. Cri-du-chat (cat's cry) syndro me, also known as 5p- (5p minus) syndro me, is a
chro mosomal condit ion that results when a piece o f chromosome 5 is missing.
2. Infants wit h this condit ion often have a high-pitched cry that sounds like that of a
cat. The disorder is characterized by intellectual disabilit y and delayed
development, small head size (microcephaly), low birth weight, and weak muscle
tone (hypotonia) in infancy.
3. Affected individuals also have dist inct ive facial features, including widely set eyes
(hypertelorism), low-set ears, a small jaw, and a rounded face.
4. Some children wit h cri-du-chat syndro me are born wit h a heart defect.
60
Page
STUDY OF MULTIFACTORIAL INHERITANCE OF FINGERPRINT RIDGE
COUNT PATTERN BY DACTYLOSCOPY
AIM: To study the mult ifactorial ridge count pattern of fingerprints in man by
Dact ylo scopy
MATERIALS REQUIRED:
1. Pencil
2. White paper
3. Hand lens or dissect ing microscope
4. Inkpad
INTRODUCTION
In 1890, Francis Galton suggested fingerprints as a useful tool in personal ident ificat io n
(Penrose 1969). Over the years, the patterns of epidermal ridges and flexio n creases on the
fingers, toes, palms of the hands and so les of t he feet have beco me o f interest to a variet y
of specialists. Dermatoglyphics, a term co ined in 1926 by Haro ld Cummins, is the study of
the epidermal ridges; in pract ice, it includes other aspects of hand, finger and footprints
(Penrose 1969). Fingerprints and other dermatoglyphics data can be obtained fro m
newborns to support a clinical diagnosis of chromosome abnormalit ies such as Down's
syndro me. Alt hough certain dermatoglyphics patterns may be associated wit h specific
chromoso me aberrat ions, teachers should especially emphasize to their students that no
single fingerprint pattern ridge count is in it self abnormal,
While the format ion of the epidermal ridge pattern and the total ridge count are polygenic,
they are also influenced by environmental factors and thus may be said to be mult ifactorial
(Penrose 1969). The embryology of the epidermal ridges offers clues to the prenatal
enviro nmental influence on their pattern of development. Foetal fingert ip pads are
observable around the sixt h week o f gestat ion and reach their maximum size by week 12
or 13, after which they regress, giving rise to elevated dermal ridges (Moore 1987). The
ridges, once formed, are very resistant to later prenatal or postnatal influences, thus
making them an ideal trait for genet ic studies as well as for ident ificat io n of individuals.
Each person’s fingerprint s are unique, which is why they have lo ng been used as a way to
ident ify individuals. Surprisingly litt le is known about the factors that influence a
person’s fingerprint patterns. Like many other complex traits, studies suggest that both
genet ic and environmental factors play a ro le.
A person’s fingerprints are based o n the patterns o f skin ridges (called dermatoglyphics)
on the pads of the fingers. These ridges are also present on the toes, the palms o f the hands,
and the so les of the feet. Alt hough the basic whorl, arch, and loop patterns may be similar,
the details of the patterns are specific to each individual.
61
Dermatoglyphics develop before birt h and remain t he same throughout life. The ridges
begin to develop during the third mo nth of foetal development, and they are fully formed
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by the sixt h month. The funct ion o f these ridges is not entirely clear, but they likely
increase sensit ivit y to touch.
The basic size, shape, and spacing o f dermatoglyphics appear to be influenced by genet ic
factors. Studies suggest that mult iple genes are invo lved, so the inheritance pattern is not
straight forward. Genes that control the development o f the various layers o f skin, as well
as the muscles, fat, and blood vessels underneath the skin, may all play a ro le in
determining the pattern of ridges. The finer details o f the patterns of skin ridges are
influenced by other factors during foetal development, including the enviro nment insid e
the womb. These developmental factors cause each person’s dermatoglyphics to be
different fro m everyone else’s. Even ident ical twins, who have the same DNA, have
different fingerprint s.
Few genes involved in dermatoglyphics format io n have been ident ified. Rare diseases
characterized by abnormal or absent dermatoglyphics provide so me clues as to their
genet ic basis. For example, a condit io n known as adermatoglyphia is characterized by an
absence o f dermatoglyphics, somet imes wit h other abnormalit ies o f the skin.
Adermatoglyphia is caused by mutatio ns in a gene called SMARCAD1. Alt hough this gene
is clearly important for the format ion o f dermatoglyphics, its ro le in t heir develo pment is
unclear.
A fingerprint in it s narrow sense is an impressio n left by the frict ion ridges of a human
finger. The recovery of fingerprint s fro m a crime scene is an important method of forensic
science. Fingerprints are easily deposited on suit able surfaces (such as glass or metal or
polished stone) by t he natural secret ions of sweat fro m the exoccrine glands that are
present in epidermal ridges. These are so metimes referred to as "Chanced Impressio ns".
In a wider use of the term, fingerprint s are the traces o f an impressio n fro m the frict ion
ridges of any part of a human or other primate hand. A print fro m the so le o f the foot can
also leave an impression of frict ion ridges.
Deliberate impressions of fingerprints may be formed by ink or other substances
transferred from the peaks of frict ion ridges on the skin to a relat ively smooth surface such
as a fingerprint card.[2] Fingerprint records normally co ntain impressio ns fro m the pad on
the last jo int of fingers and thumbs, alt hough fingerprint cards also typically record
portions of lower joint areas of the fingers.
Human fingerprints are detailed, nearly unique, difficult to alter, and durable over the life
of an individual, making them suit able as lo ng-term markers of human ident it y. They may
be emp loyed by the police or other authorit ies to ident ify individuals who wish to conceal
their ident it y or to ident ify people who are incapacitated or deceased and thus unable to
ident ify t hemselves, as in the aftermat h o f a natural disaster. Fingerprint analysis, in use
since the early 20t h century, has led to many crimes being so lved. This means that many
criminals consider gloves essent ial in 2015; the ident ificat ion of sex by use of a
fingerprint test has been reported.
PRINCIPLE:
62
Using the fingerprint total ridge count (TRC) fro m the populat ion o f male and female
students in the class. By do ing this how the traits of TRC illustrate the polygenic
Page
inherit ance model. The polygenic inheritance model describes the nature of fingerprint
ridge patterns. Fingerprint ridge patterns result fro m environmental influences on the
expressio n of a number of interact ing genes. At least seven genes are thought to be
invo lved in finger ridge format ion (Penrose, 1969). There are three main t ypes o f
fingerprint patterns: arches, loops (lunar/radial), and whorls. In this invest igat ion, how
the trait of total fingerprint ridge count illustrates the polygenic model o f inheritance will
be learnt. Student fingerprint data will be collected and a graphic pro file o f the class
prepared. Experience suggests that most of you are interested in your own fingerprints and
those of your peers, so you can expect to find this an interest ing invest igat ion to pursue.
CLASSIFICATION OF FINGERPRINTS
Fingerprint patterns of dermal ridges can be classified into three major groups: arches,
loops and whorls (see Figure). The arch is the simplest and least frequent pattern. It may
be sub classified as "plain" when the ridges rise slight ly over the middle o f the finger or
"tented" when the ridges rise to a point. The loop pattern has a trirad ius and a core. A
triradius is a point at which three groups of ridges corning-fro m three direct ions meet at
angles of about 120 degrees. The core is essent ially a ridge that is surrounded by fields of
ridges which turn back on themselves at 180 degrees. Loops can be eit her radial lunar. A
finger possesses a radial loop if it s tri radius is on the side of the litt le finger for the hand
in quest io n and the loop opens toward the thumb. A finger has a lunar loop if it s triradius
is on the side of t he thumb for that hand and the loop opens to ward the litt le finger. The
whorl pattern has two tri radii wit h the ridges forming various patterns inside.
Types of fingerprint patterns

Edward Henry recognized that fingerprints could be described as having three basic
patterns – arches, loops and whorls. These shapes and contours were later sub-divided into
eight basic patterns and are used by the FBI unt il today.
Arches
These occur in about 5% of the encountered fingerprints. The ridges o f the finger run
cont inuously from one side of the finger to the other and make no backward turn.
Normally, there is no delta in an arch pattern but if it exists, there must be no re-curving
ridge that intervenes between the core and delta po ints.
Loops
These can be seen in almost 60 to 70% of the fingerprints that are encountered. The ridges
make a backward turn of loops but they do not twist. This backward turn or loop is
dist inguished by how the loop flows on the hand and not by how the loop flows o n the card
where the imprint is taken. This imprint on the fingerprint is similar to the reverse image
that we see when we look at ourselves in the mirror. A loop pattern has only o ne delta.
Whorls
These can be found in about 25 to 35% of the fingerprint s that are encountered. Some of
63
the ridges in a whorl make a turn through at least one circuit. Therefore any pattern that
contains two or more deltas will be a whirl.
Page
Subcategories of these patterns

There are two sub-t ypes of arch patterns
Plain arch
In this pattern, a consistency of flow can be observed. It starts on one side of the finger and
the ridge then slight ly cascades upward. This almost resembles a wave out on the ocean
and then the arch cont inues it s journey along the finger to the other side. The plain arch
pattern is the simplest of the fingerprints to discern.
Tented arch
The similarit y between this pattern and the plain arch is that it starts on one side o f the
finger and flows out to the other side in a similar pattern. However, the difference is that
the tented arch lies in the ridges in t he centre and is not continuous like the plain arch.
They have significant upthrusts in the ridges near the middle that arrange themselves on
both sides o f an axis. The adjo ining ridges converge towards this axis and thus appear to
form tents.
There are three sub-categories of loops
64
Page
65
Page
Radial loops
These loops are named after a bone in the forearm known as the radius that jo ins the hand
on the same side as the thumb. The flow of these loops runs in the direct ion of the radius
bone i.e. the downward slope of the radial lo op is fro m the litt le finger towards the thumb
of the hand. These loops are not very co mmon and most of the times will be found on the
index fingers.
Ulnar loops
These are named after a bone in t he forearm called ulna. This bone is on the same side as
the litt le finger and the flow o f this pattern runs from the thumb towards the litt le finger
of the hand.
Double loop
This pattern consists of two dist inct and separate loop format ions. It has two dist inct and
separate shoulders for each core, two deltas and one or more ridges that make a comp lete
circuit. There is at least one recurving ridge within the inner pattern area between the two
loop format ions that get touched or cut when an imaginar y line is drawn.
There are three sub-groups of whorls
Plain whorl
The ridges in these whorls make a turn of one co mplete circuit wit h two deltas and are
therefore circular or spiral in shape. This is the simplest form o f whorl and also the most
commo n.
Central pocket loop whorl
These whorls consist of at least one re-curving ridge or an obstruct ion at right ang les to the
line o f flow wit h two deltas and if an imaginary line is drawn in between then no
re-curving ridge wit hin the pattern area will be touched or cut. These whorl ridges make
one co mplete circuit and may be oval, circular, spiral or any variant of a circle.
Accidental whorl
The co mposit ion of the pattern in accidental whorl is derived fro m two dist inct types o f
patterns that have at least two deltas. Therefore whorls co ntaining ridges that match the
characterist ics of a part icular whorl sub-grouping are referred to as accidental whorls.
THE POLYGENIC INHERITANCE MODEL
The inheritance of many significant human behavioural, anatomical and physiological

characterist ic s is best explained by a po lygenic model o f transmissio n. The inheritance o f
polygenic trait s cannot be analyzed by the pedigree method used for single gene traits, or
by chromosome studies as might be done in the case o f suspected chro moso mal anomalies.
Polygenic traits, in contrast to single gene traits and chromosome abnormalit ies, exhibit a
wide and con cont inuous range of expressio n and are measurable in nature. Expressio n o f
polygenic traits is often markedly affected by the environment, causing them to be
referred to as mult ifactorial traits.
The assumpt ions underlying the polygenic mod el o f inheritance include the following
66
(Nagle 1984):
1. The trait is controlled by many independently as sorting gene loci.
Page
2. Each gene locus s may be represented by an active allele which contributes an
increment or by an inact ive allele t hat contributes no increment to the e phenot ype.
3. The alleles at each gene locus lack do minance and each act ive allele have an effect
on the phenot ype that is small and equal to that of each of the other active alleles
affect ing the trait.
4. Phenot ype is determined by the sum total o f all the act ive alleles present in the
individual.
5. Finally, polygenes are not qualit at ively different fro m other genes-they regulate the
production of polypept ides and they segregate and independent ly assort according
to mendelian principles.
EXPERIMENTAL PROCEDURE
Ridge Count
The focus of this invest igat ion is the po lygenic trait called the total ridge count (TRC), the
sum o f the ridge counts for an all 10 fingers. Holt (1968)
Found that the average TRC for males is 145 and for females, 126.
The ridge count on a finger wit h a loop is determined by count ing the number of ridges
between the triradius and the centre or core of the pattern. For an arch, the ridge count is
0. For a whorl, a ridge count is made fro m each triradius s to the centre of the finger print,
but only the higher of the two possible counts is used (Figure 1).
The frequency of fingerprint pattern, in general, are as fo llows
Arch = 5%
Radial Loop= 5.4%
Ulnar loop= 63.5%
Whorl = 26.1%
Ridge count calculation:
The ridge count on the finger with a loop is determined by count ing the number of ridges
between t he triradius and the centre on a core of the pattern. For an arch, the ridge count
is zero. For whorl, ridge count is made fro m each triradius to the centre of the fingerprint .
If more than one is there highest count is to be taken.
The sum o f the ridge count for all the figures is called Total ridge count (TRC).
Observat io n Table:
67
Individual record;
Page
Name of the student

Sex
S.No Character number

1 Total number of whorls
2 Total number of lunar loops
3 Total number of radial loops
4 Total number of arches
5 Total number of twine arches
6 Total number of ridges
S.N NAME SE LEFT HAND RIGHT HAND

O OF THE X THUM INDE MIDDL RIN LITTL THUM INDE MIDDL RIN LITTL
STUDE B X E G E B X E G E
NT
1
2
3
4
5
6
7
8
9
10
The relat ionship between average Total ridge count and number of X and Y chro moso mes
is
45 X 165
46xy 145
46xx 126
47xxy 114
Results: The average ridge count of a female student is =

The average ridge count of a male student is =
68
Discussion
The purpose of this experiment is to describe how the polygenic trait of total fingerprint
Page
ridge count can be used in the classroom as a laboratory invest igat io n. Student fingerprint
data can be collected wit h ease and litt le expense. Teachers can explo it student interest in
their own fingerprint s and those of their peers to illustrate a model for polygenic
inherit ance.
The co mposit ion of the pattern in accidental whorl is derived fro m two dist inct types o f
patterns that have at least two deltas. Therefore whorls containing ridges that match the
characterist ics of a part icular whorl sub-grouping are referred to as accidental whorls.
The focus of this invest igat ion is the po lygenic trait called the total ridge count (TRC),
the sum o f the ridge counts for an all 10 fingers. Holt (1968)
Found that the average TRC for males is 145 and for females, 126.The ridge count on a
finger wit h a loop is determined by count ing the number o f ridges between the triradius
and the centre or core of the pattern. For an arch, the ridge count is 0. For a whorl, a ridge
count is made from each triradius s to the centre of the finger print, but only the higher of
the two possible counts is used.
The frequency of fingerprint pattern, in general, are as fo llows
Arch = 5%
Radial Loop = 5.4%
Ulnar loop = 63.5%
Whorl = 26.1%
47xyy 103
48xxyy 83
48xxyy 83
69
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GE

S.NO. TITLE OF THE EXPERIMENT PAGE NO.

3 Assessment of colour vision deficiency by Dr. Ishihara test 8

5 PTC taste test 13

7 Preparation of pedigree chart 23

8 Pedigree analysis: pract ice problems 30

9 Exercises on monohybrid cross 32

10 Exercises on dyhybride cross 35

12 Exercises on complete dominance and incomplete dominance 39

14 Exercises on lethal genes 41

15 Exercise on sex linked inheritance 42

17 Study of mult ifactorial inheritance o f finger print ridge count

Genetics lab manual. M.Sc.(p) Zoology. Dr.C.V.Narasimha Murthy. Associate Professor(contract. )

Genetics lab manual. M.Sc.(p) Zoology. Dr.C.V.Narasimha Murthy. Associate Professor(contract. )

Clumping in both A& B blood group = AB

S.NO. NAME GROUP

Genetics lab manual. M.Sc.(p) Zoology. Dr.C.V.Narasimha Murthy. Associate Professor(contract. )

Genetics lab manual. M.Sc.(p) Zoology. Dr.C.V.Narasimha Murthy. Associate Professor(contract. )

Genetics lab manual. M.Sc.(p) Zoology. Dr.C.V.Narasimha Murthy. Associate Professor(contract. )

Aim: To accesses colour vision deficiency of congenital origin by reading colour

Method : Ishihara method

daylight and are responsible for co lour discriminat io n.

Genetics lab manual. M.Sc.(p) Zoology. Dr.C.V.Narasimha Murthy. Associate Professor(contract. )

AIM : To observe Sickling pheno menon in human eryt hrocytes.

Genetics lab manual. M.Sc.(p) Zoology. Dr.C.V.Narasimha Murthy. Associate Professor(contract. )

Figure 1. The equilibrium react ion equat ion

The discovery of the sickle cell mutation came

promises to overco me the historical constraints

Structural Gene: Relationship to Sickle

STUDIES ON DIFFERENTIAL ABILITY OF TASTEING PTC

METHOD : Harries and Kalmus method 1949.

to taste PTC can vary up to 5 orders of magnitude (Blakeslee, 1932).

Preparation of PTC solutions

P 2 + q 2 + 2pq =1 S.NO PARAMETER VALUE

1. Blakeslee, Albert (Jan 1932). "Genetics of Sensory Thresholds: Taste for

Genetics lab manual. M.Sc.(p) Zoology. Dr.C.V.Narasimha Murthy. Associate Professor(contract. )

ho mozygotes express a blue-eyed phenotype. Co-dominance also occurs where the

Genetics lab manual. M.Sc.(p) Zoology. Dr.C.V.Narasimha Murthy. Associate Professor(contract. )

HOW DO POPULATION SIZE AND NATURAL SELECTION INFLUENCE

EXERCISE 1: Modeling Genet ic Drift

1. Select 10 toothpicks to represent a populat ion of 10 animals.

2. Place 50 dark-colored beads and 50 light-colored beads into a beaker. These

3. Calculate expected frequencies of AA, Aa, and aa individuals, based on

Where p = the frequency o f allele A

5. DATA TABLE 1: Exercise 1- Expected and observed genotypic frequencies

6. Calculate gene frequencies in your populat ion by count ing "genes" in yo ur

DATA TABLE 2: Exercise 1- Gene frequencies

Generation (f)A p (f)a =q

1 (initial 0.5 0.5

Genetics lab manual. M.Sc.(p) Zoology. Dr.C.V.Narasimha Murthy. Associate Professor(contract. )

6. Repeat steps 4 through 6 a total of 10 times to simulate 10 generations of genetic

ASSIGNMENT: Based on this exercise answer questions 1 and 2 \

EXERCISE 2: Modeling Select ion

1. Select 10 toothpicks to represent a population of 10 animals as you did in the first

values in DATA TABLE 4 (. This t ime,

Genetics lab manual. M.Sc.(p) Zoology. Dr.C.V.Narasimha Murthy. Associate

DATA TABLE 3: Exercise 2- Genotypic frequencies

Generation Frequency of AA Frequency of Aa Frequency of aa

DATA TABLE 4: Exercise 2- Gene frequencies

Generation Frequency of A (p) Frequency of a (q)

AIM: To prepare a pedigree chart and analysis o f data.

are shown as offshoots to this line

according to age (oldest on the left)