Cyto Midterms

MIDTERMS
Cytogenetics
WEEK 1 | MEDELIAN INHERITANCE PATTERNS
: CYTOPLASM
LEARNING OBJETIVES  Heterozygous
 Differentiate the terms commonly utilized in  Alleles are different (Dd)
inheritance patterns  When the alleles are different such as on
 Differentiate Phenotype and Genotype this example (Dd) we use the terms
 Differentiate Gregor Mendel’s three laws of heterozygous or heterozygote
inheritance
MENDELIAN PRINCIPLES
 Differentiate Monohybrid and Dihybrid Cross
 Explain the use and illustrate the Punnett  Gregor Mendel specifically cross pea (Pisum
Square sativum) plants that possessed the desired
 Interpret Monohybrid and Dihybrid Cross traits.
 2 methods:
 Involving self-fertilization (selfing)
GENETIC TERMS OF INHERITANCE
 Useful in technique in generating the
 Phenotype purebred plants
 Physical expression of a trait  Selfing occurs when pollen falls from the
 Gene anther onto the stigma of the same
 Mendel’s unit factors representing the units flower before the bud opens
of inheritance  Self-fertilization of individual plants was
 Alleles a useful technique in generating the
 Phenotype is determined by alternative purebred plant
forms of a single gene  Involving cross-fertilization or cross-
 For any given character such as the height breeding
of a plant the phenotype is determined by  Mendel cross fertilizes the plants by
alternative forms of a single gene called opening the nail of a flower before the
Alleles anthers matured and removing them to
 For example, the unit factors representing prevent cell fertilization. Mendel
the tall and the dwarf are alleles that is collected the pollen from the remove
anther and place it on the stigma of a
determining the height of the plant
second plant
 By convention such as in a lower case or in
lower case letter this designates the allele MENDEL’S EXPERIMENTAL DESIGN
for the recessive trait while in upper case
 The parental
letter this designates the allele for the
generation or
dominant trait. Thus, for Mendel's plan for
your P the pure
his experiment we use the small letter d for
breeding dwarf
the dwarf allele and the capital letter d for
plants pollinated
the tall allele. the pure
 Genotype breeding tall
 A symbol when alleles are written in pairs plants.
to represent the two unit factors present in Offspring of this
any individual (DD, Dd,dd) cross are
 Genotype actually designates the genetic referred to as
makeup of an individual for the trait or the your first filial
traits it describes. So whether the individual generation or
is haploid or diploid. By reading the your F1.
genotype we know the phenotype of the  Mendel also
individual. referred to
this F1 as
 Homozygous
hybrids
 Both alleles are the same (DD or dd)
because the offspring were a mixture from
 For example, we have homozygous
parents with different traits and will refer to
dominant and heterozygous dominant
this offspring as a monohybrid because
pertains to a tall and homozygous recessive they are hybrid for only one characteristic
pertains to the dwarf. When both alleles are which is the height.
the same such as this example (DD or dd)  The F1 plants were phenotypically tall so
the individual is called homozygous for the Mendel referred to the tallness as the dominant
trait or also called a homozygote trait. The alternative or which is the dwarfness
he referred to as recessive.
MLS 408 1
MIDTERMS
Cytogenetics
: CYTOPLASM
 He noticed that when crossing a pure  So for the law of segregation the fusion of
breeding dominant individual with a pure two gametes or fertilization forms a zygote
breeding recessive individual all the F1 that restores two alleles in the cell so the
progeny expressed the dominant trait. He explanation of how alleles are inherited
wondered what happened to the dwarf trait from generation to generation constitutes
in the F1 generation. the mendel's first principle which is the law
of segregation that states that during
gamete formation two alleles separate or
segregate randomly in which with each
gametes having an equal probability of
receiving either allele so fertilization again
involves the fusion of two gametes which
re-establishes the two copies of the gene in
the cell
 P cross → F1 generation
 F1 self-pollinate → F2 generation
 Mendel observation: 787 tall and 277 dwarf
(3:1)
 The ratio suggested to him that the
mechanism of inheritance at work in pea
plant height
 ingle gene controls the height of pea plants, the
gene exists in two forms of alleles: Mendel's law of segregation explains:
 D ( tall, dominant) 1) Heterozygous F1 progeny, all have
 d (dwarf, recessive) dominant tall characteristics.
 The picture above shows that when the F1  First, the heterozygous f1 or the first filial
offspring were self-fertilized to produce the progeny which all have the dominant tall
second filial generation or the F2 both characteristics getting one allele from each
phenotypic that tall and the dwarf offspring parent
occurred. The recessive or the dwarf 2) F1 Progeny are heterozygotes
characteristic reappeared.  Second, the f1 progeny are heterozygotes
 The genotype of the pure breeding plant of the because they possess two different alleles
parental tall plant is both capital letter D. That 3) F1 progeny possess the recessive trait,
of the F1 tall plant does have a capital letter D accounts for the reappearance of dwarf
and a small letter d. Thus, the two different phenotype in F2.
genotypes can actually produce dominant  Third, the f1 progeny possess the recessive
phenotypes. Genotypes may either be alleles as you can see in this genotype even
homozygous in which both alleles are the same though they are all phenotypically tall which
or heterozygous in which two alleles are accounts for the reappearance of the dwarf
different phenotype in the f2 generation
4) Hybrid nature of F1 accounts for 3:1
MONOHYBRID CROSS
ratio of tall-to-dwarf phenotype in F2
LAW OF SEGREGATION offspring.
 Lastly, the hybrid nature of the f1 individuals
 This law states that during gamete accounts for the three is to one ratio of the
formation, two alleles separate (segregate) tall to dwarf phenotype in the f2 offspring.
randomly.
MLS 408 2
MIDTERMS
Cytogenetics
: CYTOPLASM
 So as you can see again in the figure that homozygous that is both capital letter d and
both capital letter d or the homozygous can two thirds the heterozygous like in this
produce only one type of gamete which example.
contains the dominant allele and the double  Now so the tall homozygous when it
small letter d or the homozygote can undergoes cell fertilization it should produce
similarly produce only gametes containing only the f3 or the only the tall f3 off spring
the recessive um d allele thus the f1 so they are genotypically dominant so the
individual or uniformly heterozygous with a genotype for this is both capital letter D
capital d or small letter d so this is called however on each the f2 heterozygote when it
heterozygous dominant undergoes cell fertilization should produce
 So each f1 individual can produce two kinds the tall and the dwarf offspring in a ratio that
of gametes in equal frequencies and these is identical to that produced by the self f1
two types of gametes randomly fused during plants so these are the three tall to one
fertilization to reduce the f2 generation dwarf.
 So you can see 2) Using testcross, which crosses any
in earlier organism with a recessive homozygote.
figures that the  Use the test cross which crosses any
f2 generation organism with any recessive homozygote
would have the because the gametes of the recessive
phenotypic homozygotes contain only recessive alleles
ratio of 3 is to so the alleles carried by the gametes of the
1 which is the other parent will determine the phenotypes
standard of the offspring.
mendelian  This test cross can be used to distinguish the
ratio for the genotype of the phenotypically dominant
monohybrid individual so if the tested individual has the
cross but we homozygous dominant genotype the test cross
would also will only produce a progeny with a dominant
expect a phenotype in contrast if the tested individual or
genotypic ratio heterozygous the test cross will produce a
progeny of which 50 percent or ½ will be
of one is to two is to one so do you see Why it's
phenotypically dominant and 50 percent will be
okay to have one is to two is to one?
recessive
TESTING THE LAW OF SEGRAGATION
LAW OF COMPLETE DOMINANCE
1) Self-fertilize the F2 individuals to
produce F3 generation  Mendel's Law of Dominance
 So the challenge actually is to demonstrate  "In a cross of parents that are pure for
that this genotypic ratio exists in the f2 contrasting traits, only one form of the trait
generation or offspring when we can only will appear in the next generation. Offspring
observe the phenotypes so the simplest way that are hybrid for a trait will have only the
to test the hypothesis is to self-fertilize the dominant trait in the phenotype."
f2 individual to produce the f3 generation  In the heterozygotes,
 as you can see in this
 example the one
 So the law of segregation actually predicts allele may conceal
the frequencies of any phenotypic classes the presence of
that would result so the dwarf f2. so the another so this
dwarf f2 should be the recessive principle is a
homozygotes and so when it undergoes this statement about the
self-fertilization they should produce only the genetic function and
d bearing or the small letter d bearing some alleles evidently control the phenotype
gametes and this is the only dwarf offspring even when they are present in a single copy.
the f3 generation So, mendel thought that maybe one gene
 On the other side the f2 plants or the tall f2 suppressed the other or it prevented the other
plants however, should be a genotypically gene from expressing it.
heterogeneous group so one third should be
MLS 408 3
MIDTERMS
Cytogenetics
: CYTOPLASM
DIHYBRID CROSS
LAW OF INDEPENDENT ASSORTMENT
 Mendel analyzed the inheritance pattern of two

traits simultaneously
 F1 generation: all round, yellow seeds
 so he examined plants that differed in
both form and color of their peas so he
crossed the homozygous plants that
produced the round yellow seeds with
plants that are produced with wrinkled
green seeds. so mendel's results appear
in this figure, the letter capital letter w
is assigned to the dominant allele which
is the round and the small letter w to
the recessive allele which is wrinkled
 F2 generation:
 315 round, yellow seeds 108 round,
green seeds 101 wrinkled, yellow seeds
32 wrinkled, green seeds
 9:3:3:1 (Phenotypic ratio)  In this figure, the P generation plants in this
 Another trait which is capital letter g cross produce only one type of gamete (WG;
are used for the yellow color and for wg).
the small letter g the green color.  The resulting F1 plant is heterozygous for
 Today as you observed f1 plants all both genes and what we call our dihybrid.
had round yellow seeds which So self-fertilizing gametes with four
demonstrated that round was possible gametes in the F1 dihybrid
actually dominant to wrinkles and
produces these crosses (F2 figure).
yellow was actually dominant to
 When we plot it in the Punnett square,
green so when these f1 plants were
these are the possible zygotes for this
cell fertilized they produced the f2
generation of plants that had all the cross.
four possible combinations of the APPLICATIONS TO MENDEL’S PRINCIPLE
two seed characteristics you know.
 So, we have 315 round yellow PUNNETT’S SQUARE METHOD
seeds, 108 round green seeds, 101
wrinkled yellow seeds, 32 wrinkled  For situations involving one or two genes, it is
green seeds. possible to write down all the gametes and
 So dividing the number of plants combine them systematically to generate the
by 32 which is the number in the array of zygotic genotype.
smallest group it gives a 9.84 to  So once this have
9.38 to 9.16 to 1.0 ratio which is been obtained, the
very close to nine is to three is to Principle of
three is to one so this ratio Dominance can be
actually we would expect if the used to determine
genes governing these two traits the associated
behave independently of each phenotytpe.
other  Invented by
 P-generation:
Reginald C.
 WG (homozygous dominant); wg
Punnett
(homozygous recessive)
 A straight forward way of predicting the
 F1 generation:
outcome of crosses.
 WwGg (heterozygous) → self-fertilize
 F2 generation:
 9:3:3:1 ratio (Phenotypic ratio)
MLS 408 4
MIDTERMS
Cytogenetics
: CYTOPLASM
 Using the forked-line method, we can combine
these separate ratios into the overall
phenotypic ratio for the offspring of the cross.
 The genotypes and ultimately the
phenotypes of the offspring of the cross
depend on which allele the heterozygous
parents transcript.
 For example, we have three tall, three
yellow, and three round. We just have to
multiply, 3x3x3 = 27 tall, yellow, round;
3x3x1 = 9 tall, yellow, wrinkled. So on and
so forth.
PROBABIITY
 Alternative method to the Punnett square and

Forked-Line method
 The Mendelian principle of segregation is like a
coin toss
 Probability: Dominant allele (1/2);
Recessive allele (1/2)
 We have used it to analyze the zygotic output  When a heterozygote produces gamete,
of the cross with Mendel’s yellow -round F1 ½ contain one (1) allele and half contain
hybrid, which is the type of mating called the other so the probability that a
intercross. However, in more complicated particular gamete contains the
complications, involving more than two genes, dominant allele is therefore, ½ and the
the Punnett square is unmanageable. probability that it contains the recessive
allele is also ½
FORKED-LINE
 Can we use this frequently to predict the
 Involves two or more genes outcome of crossing the two (2) heterozygote?
 Instead of enumerating the progeny in a square  In such a growth, the gamete will be
by combining the gametes systematically, we combined randomly to produce the next
tally them in a diagram of branching lines. generation.
 As an example, let us consider an intercross

between the peas that are heterozygous for the
three independently assorting genes.
 One controlling the plant height, one  The chance for a homozygous recessive (Red
controlling the seed color, and one circle) is ¼, however the chance for
controlling the seed texture. heterozygous dominant (Blue circle) is actually
 This is an example of a trihybrid cross. This ½.
can be partitioned into three monohybrid  This is because there are two (2) ways of
crosses. So for each gene, we expect the creating heterozygote:
phenotype to appear in a 3:1 ratio.  One (1) A will come from the egg and
 As explained earlier, the phenotypic ratio is the sperm
seen in monohybrid cross.  Because each of these events has ¼
 Thus, for example, we have these chance of occurring, the total
intercross, this crop will produce a ratio probability that an offspring
of three tall plants and one dwarf. heterozygous is ½, why?
MLS 408 5
MIDTERMS
Cytogenetics
: CYTOPLASM
 ¼+¼=½ INCOMPLETE DOMINANCE
 We, therefore, obtain the following
 An allele is dominant if it has the same
probability distribution of the
phenotypic effect in heterozygotes and
genotypes from the mating, thus:
homozygotes (Aa and AA).
 ¼ homozygous dominant,
 Both the Aa and AA are phenotypically
 ½ heterozygous dominant
indistinguishable. However, a heterozygote
and
has a phenotype that is different from
 ¼ homozygous recessive
either of its associated homozygous.
 By applying the principle of dominance, we
 Heterozygote has phenotype different from
conclude that since they are the same
that of either of its associated homozygotes.
dominant, so we can add the frequency (Red
box)
 ¼ + ½ = ¾ (Black box) frequency of the
dominant phenotype straightforward. And
¼ (Blue box) will be recessive
 White and red varieties are the homozygous for

different alleles of a color determining gene, so,
when crossed they produced heterozygous (the
Pink flowers).
 The allele or Red color is therefore said to be
 In the example above, we are crossing two incompletely or partially dominant over the
different traits. What fraction of progeny
allele for the white color.
will show the recessive phenotype for at  The most like explanation is that the
least one gene?
intensity of the pigmentation in these
 There three (3) phenotypes (Red Box) that
species depends on the amount of product
would satisfy this condition. There would be
that is specified with the color gene.
the A and Homozygous recessive, the A-
 If these genotype specifies this product and the
represent either A or a (homo- or
ww genotype does not specify the product.
heterozygous dominant)
 The homozygous dominant will have twice
 The answer to the question must be as much as of the product as of the
therefore be the sum of the probabilities
heterozygotes
that is corresponding to each these  When the heterozygotes phenotype is a
genotype:
midway between the phenotype of the two
 A- bb = ¾ X ¼ = 3/16 (2) homozygotes, so the partially dominant
 A- : 3/4, because of ¼ of
allele is sometimes said to be a semi-
homozygous dominant and ½ dominant or half-dominant.
heterozygous dominant,
 Another exception to the principle of simple
 bb : ¼ dominance arises when a heterozygote shows
 aa B- = ¼ X ¾ = 3/16
characteristics found in each of the associated
 aa bb = ¼ X ¼ = 1/16 homozygotes.
 Then, add the corresponding phenotype
 This occurs with the human blood type which
and results to 7/16 (Red circle)
are identified by testing for a special cellular
 7/16 is the fraction of the progeny will
products called antigens
show the recessive phenotype for at
 The antigens are detected by its ability to
least one gene.
react with the actors that is obtained from
the serum portion of the blood. And these
factors which are produced by the immune
system, to recognize the antigen quite
specifically.
MLS 408 6
MIDTERMS
Cytogenetics
: CYTOPLASM
PROBLEM SOLVING
PROBLEM #1
Two highly inbred strains of mice, one with black

fur and the other with gray fur, were crossed, and
all of the offspring had heterozygous black fur.
Predict the outcome of intercrossing the offspring.
● This problem is a typical example of a

monohybrid cross since we only observe
one trait which is the fur color.
● First thing to do is to assign the genotype.
 For example in the picture, there is called the
● It is better when the same letters are used.
Anti-M Serum recognize only the M antigen on
As seen in this problem, the F1 generation
the human blood cells and another serum
produces black fur.
called Anti-N Serum that recognizes only the
antigen on these cells.
 When one of these sera detects its specific
antigen in the blood typing test, expect that
these cells will clamp together in a reaction
called agglutination
 Thus, by testing cells for agglutination
with different sera, then medtech can
identify which antigen are present and
thereby determining blood type of the
patient or the individual.
 The ability to produce the M and N antigens
is determined by the gene with two alleles.
 One allele allows the M-antigen to be
produce and the other allow the N-
antigen to be produced
 Homozygotes for the M allele produce only
the antigen
 Homozygotes for the N allele produce only the ● The result would give us all the zygotes a
N antigen black mice or black fur color. All zygotes
 Heterozygotes for these two (2) alleles have a heterozygous dominant. Therefore,
produce both kinds of antigens (Codominant) the F1 phenotype is black.
 Because the two (2) alleles appear to ● We need to predict the outcome of
contribute independently to the phenotype intercrossing the offspring of the parent. So
of the impact of the heterozygote, so they another Punnett square is made.
are said to be a codominant
 Codominant: Independence of the
allele function. Neither allele is
dominant or even partially dominant
over the other
 So it would be therefore be
inappropriate to distinguish the alleles
by the upper and lower case letter,
instead this codominant or co-dominant
alleles are represented by the
superscript on the symbol for the gene.
 In this case the L
 Letter L: it contributes to Karl
Landsteiner (discoverer of
blood typing) ● By rule of dominance, capital G comes first.
MLS 408 7
MIDTERMS
Cytogenetics
: CYTOPLASM
● Giving us the F2 genotype, we have three genotype - WWDD (white, disk-shaped
varieties of genotypes. We have fruit).
homozygous dominant, heterozygous
WWDD x wwdd
dominant, and homozygous recessive.
● By rules of probability, each one of the ● So when we cross this, the F1 generation
squares is a quarter or one fourth (¼). would be WwDd. Which is a heterozygous
Based on the Punnett square, the white and heterozygous disk-shaped
homozygous dominant has a ¼ probability. squash.
Also for the heterozygous dominant, we
have ¼ probability plus ¼ probability,
giving us 2/4 probability or ½ probability.
Lastly, the homozygous recessive has ¼
probability.
● F2 phenotypic ratio results in:
○ one homozygous dominant black fur
(1 GG),
○ two heterozygous dominant black
So lahat ng phenotype will produce the f1
fur (2 Gg), generation. our f1 phenotype would be white, disk-
○ and one homozygous recessive gray
shaped squash. When we cross these or self
fur (1 gg).
fertilized, this f1 genotype will get the f2 genotype
● The two strains of mice are evidently
of the f2 generation. When we solve for this, kasi
homozygous for different alleles for a gene
2 traits na siya, so ang possible na traits or the
that controls the fur color.
gametes for this type of genotype (WwDd), pwede
● The capital G is dominant because it is seen
kasi siyang ganito (WD) isang gamete na yan.
in the F1 generation that all the F1 animals
Second gamete (Wd) or (wD) or (wd).Sabi kanina
are black. So when these mice are
dapat daw mauna ang Capital letter so bakit pwede
genotypically heterozygous dominant or
and wD – kasi different ang kanilang traits. Kung
intercross, the capital and small letter G will
same lang ang traits for this gamete, so mauna
segregate from each other to produce the
talaga ang D but since in this gamete we have 2
F2 generation or population that is
traits.so pwedeng ang isa recessive then ang isa
consisting of three genotypes or zygotes.
dominant.
● The phenotypic ratio is 1:2:1. However,
because of the dominance of the G allele, 1 Eto yung mga number of zygote na ma observe
GG and 2 Gg have the same phenotype natin when we cross or self-fertilize the f1
which is black. So now the F2 generation.
phenotypic ratio would be 3 black fur
to 1 gray fur.
WD wd Wd wd
PROBLEM #2
WD WWDD WwDD WWDd WwDd
In summer squash, white fruit color (W) is
dominant over yellow fruit color (w) and disk- wD WwDD wwDD WwDd wwDd
shaped fruit (D) is dominant over sphere-shaped Wd WWDd WwDd WWdd Wwdd
fruit (d). If a squash plant true-breeding for white,
disk-shaped fruit is crossed with a plant true- wd WwDd WwDd Wwdd wwdd
breeding for yellow, sphere-shaped fruit, what will
the phenotypic and genotypic ratios be for: 2nd row & column: Since small letter mauna ba
siya? Hindi kasi pwede magkatabi ang same traits
a.) the F1 generation?
kasi gi cross mo etong dalawa (wD and WD).
b.) the F2 generation?
These are the possible gametes or the possible
● This problem is typically an example of the genotypes for different offspring of f2 generation.
dihybrid cross because we observed two
different traits: the fruit color and shape of Each box contains 1/16 probability now. We
the fruit. arranged them according to dominant or recessive.
● If it is true-breeding it immediately means
it is homozygous. So the parent now is this
MLS 408 8
MIDTERMS
Cytogenetics
: CYTOPLASM
WD wd Wd wd wd WwDd WwDd Wwdd wwdd

Heterozygous for both traits. 4/16 probability
wD WwDD wwDD WwDd wwDd having heterozygous dominant for both traits
(WwDd).
Wd WWDd WwDd WWdd Wwdd
wd WwDd WwDd Wwdd wwdd WD wd Wd wd

This is a homozygous dominant for both traits
(WWDD). We can also observe that there’s a wD WwDD wwDD WwDd wwDd
homozygous dominant for color only and
heterozygous for shape only. WWDd –
homozygous dominant for color and heterozygous wd WwDd WwDd Wwdd wwdd
for the shape. So we have 2/16 frequency of
So we have heterozygous for color and
homozygous dominant for color and
homozygous recessive for shape. So we have
heterozygous dominant for shape (WWDd).
2/16 gene for having heterozygous dominant
for color and homozygous recessive for
WD wd Wd wd shape. So we have a genotype of this: Wwdd
WD WWDD WwDD WWDd WwDd (color orange).
wD WwDD wwDD WwDd wwDd WD wd Wd wd
Wd WWDd WwDd WWdd Wwdd WD WWDD WwDD WWDd WwDd
wd WwDd WwDd Wwdd wwdd wD WwDD wwDD WwDd wwDd

We can observe that one of its zygote is
heterozygous dominant for color and homozygous wd WwDd WwDd Wwdd wwdd
dominant for shape. So 2/16 frequency or
We also have homozygous recessive for color and
probability of having heterozygous dominant
homozygous dominant for the shape. So we have
for color and homozygous dominant for shape
1/16 homozygous recessive for color and
(WwDD).
homozygous dominant for shape, giving us a
genotype of wwDD (color violet).
WD wd Wd wd
WD wd Wd wd
wD WwDD wwDD WwDd wwDd
wd WwDd WwDd Wwdd wwdd
wd WwDd wwDd Wwdd wwdd
Homozygous dominant for color and homozygous Next, we have 2/16 homozygous recessive for
recessive for the shape. 1/16 probability of color and heterozygous for shape, giving us a
having homozygous dominant for color and genotype of wwDd (color purple).
homozygous recessive for shape (WWdd)
WD wd Wd wd
WD wd Wd wd
MLS 408 9
MIDTERMS
Cytogenetics
: CYTOPLASM
wd WwDd wwDd Wwdd wwdd
Finally, we have 1/16 of homozygous
recessisve for both traits, giving us wwdd
(blue).
FINAL OUTPUT:
If you have noticed, it is the same pattern Gregor

Mendel observed, which is 9:3:3:1, in a cross
where there are two traits involved.
PROBLEM #3
Coat color in mice is incompletely dominant. Yellow

(Y) and white (W) colored mice are homozygous,
while cream-colored mice are heterozygous (YW).
This are the genotype ratio where If two cream-colored mice mate, what percent of
1:2:2:1:4:2:1:2:1. each phenotype can we expect of their offspring?
Show the Punnet Square.
● 1/16 homo dominant for both traits
(WWDD) What is needed is percent for each phenotype. We
● 2/16 homo dominant for color; hetero can show through Punnet square. This is an
dominant for shape (WWDd) example of an incomplete dominant problem.
● 2/16 hetero dominant for color; homo
● Genotypes:
dominant for shape (WwDD)
○ YY (dominant yellow color from one
● 1/16 homo dominant for color, homo
parent mice)
recessive for shape (WWdd)
○ WW (dominant white color from one
● 4/16 hetero dominant for both traits
parent mice)
(WwDd)
○ YW (cream-colored phenotype)
● 2/16 hetero dominant color; homo
recessive shape (Wwdd) The problem is if we mate two cream colored mice,
● 1/16 homo recessive color, homo dominant so what is the offspring percent of each phenotype
shape (wwDD) can we expect of their offspring? Again, we cross
● 2/16 homo recessive color, hetero the cream colored mice so making the Punnet
dominant shape (wwDd) square using YW x YW.
● 1/16 homo dominant for both traits (wwdd)
Y W
For the phenotypic ratio, we can cluster the
phenotypes: Y YY YY
● 9/16 - White, disk shape W YW WW
○ 1/16 - WWDD
Genotype ratio:
○ 2/16 - WWDd
○ 2/16 - WwDD ● ¼ YY: ¼ YW: ¼ WW
○ 4/16 - WwDd
● 3/16 - White, sphere shape Upon conversion of fraction to percent: 25% YY :
○ 1/16 - WWdd 50% YW: 25% WW.
○ 2/16 - Wwdd So 25% of the offspring will manifest yellow,
● 3/16 - Yellow, disk shape 50% would manifest the cream color and
○ 1/16 - wwDD 25% will manifest the white color.
○ 2/16 - wwDd
● 1/16 Yellow, sphere shape
○ 1/16 - wwdd
MLS 408 10
MIDTERMS
Cytogenetics
WEEK 2 | BLOOD TYPING AND BLOOD GENETICS
: CYTOPLASM
MULTIPLE ALLELES AND BLOOD GENETICS  Multiple alleles is when there are more than two
allele possibilities for a gene.
MENDEL’S PRINCIPLES – A REVIEW
 Coat color in rabbits is determined by a single
 Inheritance of traits is determined by genes. gene with 4 possible alleles.
 Genes are passed from parents to offspring.
 We have two (2) sets of genes – One (1)
from the mother and one (1) from the
father
 Alleles can be dominant or recessive.
 In sexually reproducing organisms – each adult
has two copies of each gene – one from each
parent.  For example above, we have the following
genotypes and its phenotype.
EXCEPTIONS TO MENDEL’S WORK
BLOOD GENETICS
 Some alleles are neither dominant nor
recessive.  The human ABO gene is on chromosome9.
 There are some alleles that are dominant  Everyone has two copies of chromosome 9 so
together when they are mixed with each you have two ABO genes.
other, which is called codominance  One copy is inherited from our mother, the
 Incomplete dominance on the other other from our father.
hand, neither of the alleles are dominant.
 Many traits are controlled by multiple alleles or THE ABO BLOOD SYSTEM
multiple genes.  It is one of the most important genetic and
MULTIPLE ALLELES hematologic principles that we should know.
 This is a controlled by a tri-allelic gene
 Homologous chromosomes  This is a multiple allele principle or part
 Chromosomes occur in pairs. (homologous of a multiple allele system applied to
mean “same”) humans
 For example, in human, we have 23  Allele IA produces antigen A
pairs of chromosomes, meaning we  Allele IB produces antigen B
have 23 types of chromosome, but  Allele i produces no antigen
we two sets in each pair of  It can generate 6 genotypes and 4
chromosome. phenotypes
 4 phenotypes of the ABO blood system:
 The different alleles of a gene occupy the
 Type A
same positions on each chromosome
 Type B
 For example, if we
 Type AB
have gene here in
 Type O
chromosome number two
 The alleles control the production of antigens
(2), the same location of
on the surface of the red blood cells.
gene is also located on the
 These antigens, in terms of the ABO blood
homologous chromosome
systems, are carbohydrate substances that
because they basically
are attached to protein on this presence on
somewhat the same.
the membrane of the erythrocytes.
 It only varies in terms
 Two of the alleles (isoglutamine A and B) are
of the allele
 So far, each gene we have discussed has been codominant to one another and both are
dominant over the third
made of two possible alleles.
 Ex. B = blue, R = red; b= yellow, r = white ALLELES
 For example, the color of the petals of
flower. We can designate that Capital letter  There are three versions (called "alleles") of
B for having blue color and small letter b for this blood type gene: A, B, and O.
yellow.  A person's blood type is determined by which
 However, it is possible to have several different allele he/she inherits from each parent.
allele possibilities for one gene.
MLS 408 1
MIDTERMS
Cytogenetics
: CYTOPLASM
PHENO VS. GENO BLOOD TYPES
 The genetic makeup of an organism is called  The alleles we discussed "code" for blood type.
the "genotype". The code that will tell what  What they REALLY "code" for is a specific
type of phenotype would be visible or would enzyme.
express in a certain organism.  That enzyme creates specific antigens on your
 The “phenotype" is the visible properties of an RBC.
organism.
 In this case, the A, B, and O allele combination
a person has is their genotype
 Their blood type is their phenotype.
DOMINANT VS. RECESSIVE GENES
 The "A" allele is dominant and so is the "B'

allele.
 Together though, the "A" and “B" alleles are
codominant.
 The "O" allele is recessive.
 For blood type A, the antigen is found on

the surface of the red blood cell which is
antigen A and the antibody found in the
plasma is antibody B. They can receive from
type O or type A. In type O, we can
separate the red blood cell from the plasma
isolating only the red blood cell. Also in type
O, we do not have any antigens that are
found in the surface of the red blood cell so
it’s safe to give to type A.
 For blood group B, the antigen that is found
 Homologous chromosome are
in the surface of the red blood cell is the
chromosomes pairs where each
antigen b and the antibody that is found in
chromosome in the pair are alike and have
the serum or plasma is antibody A. They
genes for the same characteristics at
can receive from type O or tybe B.
corresponding loci (positions)
 For blood group AB, this is their genotype
 Alleles are genes which occur at the same
(IAIB), and the antigen that is found on the
position (loci) on a chromosomes
surface is antigen A and antigen B. There is
 This duck is pure for the traits that these
no antibody that is found in the plasma or
pairs of alleles code for because each pair
a serum in the blood. They can recieve all
of alleles are the same (homozygous)
blood types and is known as the “universal
DETERMINING THE GENOTYPE recipient).
 For blood group O, this is their genotype
 Human blood type is controlled by three alleles:
(ii). They do not have any A or B antigens
IA, IB and i.
found in the surface of the red blood cell.
 Alleles IA and IB are dominant over i
The antibody they have are found in the
 IA and IB are codominant
plasma is A and B. They can only receive
Phenotype (blood Genotypes from type O, and they are the “universal
type) donor”.
A IA IA or IAi
B IB IB or IBi
AB IA IB
O ii
MLS 408 2
MIDTERMS
Cytogenetics
: CYTOPLASM
ABH ANTIGENS carbohydrate that is nearest to the red
blood cell, we have glucose, galactose, n-
 Results from the interaction of genes at three
acetylglucosamine, and a galactose moiety
separate loci (ABO, Hh & Se).
(or just galactose).
 Produce specific glycosyltransferases
that add sugars to a basic precursor FORMATION OF THE A ANTIGEN
substance.
 The reason why we have blood groups
is because of the sugars that are found
on the terminal portion of these
glycoprotiens.
 A, B, & H Ag are formed from the same
basic precursor material paragloboside
or glycan.
 How do we form the A antigen?

 Now A antigen is formed when you have
this enzyme: n-acetylgalactosaminyl
transferase, which is a product of glutenin
A gene.
 These carbohydrates, glucose, galactose,
n-acetylglucosamine and galactose are
 So where can we find the antigen? When precursor substances. They are required in
you say antigen in terms of the blood group, order for you to have a blood group.
it is found in the surface of the eurythrocyte Without them, you won’t be having any
or the membrane of the red blood cell. blood group.
 The picture above is a cross section of the  With A antigen, you have the presence of a
cell membrane of the eurythrocyte. fucose and an n-acetylgalactosamine,
 As you can see here, there is a lot of which is found at the terminal portion of the
phospholipids and proteins. antigen, which makes it the A antigen.
 These proteins are bound to  This enzyme, n-acetylgalactosaminyl
glycoprotiens which they are also transferase, adds an n-acetylgalactosamine
contain carbohydrate side chains at the galactose terminal of that precursor
that will dictate what type of antigen substance or paraglobocyte or glycan
is found in the carbohydrate side (which is galactose).
chain.
 Again, from antigen A it is acetyl galactosamine
that is being added at the terminal portion of
the precursor substance. For the antigen B, the
enzyme that is responsible for the formation of
b antigen is D-galactosyl transferase, so here
another galactose moiety is added into the
terminal portion of the precursor substance
(glucose, galactose and acetic glucosamine and
a galactose).
 This shows you the precursor substance or

the paraglobocyte that is found in the
surface of the red blood cell. This is the
precursor substance which stays the same
for all blood groups. Starting from the
MLS 408 3
MIDTERMS
Cytogenetics
: CYTOPLASM
FORMATION OF THE B ANTIGEN
 In order for your antigens to form, it

requires fucosyl transferase to add
 For the B antigen, that galactose in the terminal fucose and once it is added, the terminal
portion will bonded again or will be attach to portion whether it’s an acetyl
another galactose and that galactose will now galactosamine or another galactose moiety
form your B antigen. that is added to the terminal portion of the
 Again, for type A its an acetyl galactosamine precursor product will dictate if it’s A or B
that is added to the terminal portion for B its antigen.
galactose  If it DOESN’T CONTAIN any N-acetyl
galactosamine or glucose or glucose at
the terminal portion but it contains a
fucose that is your O antigen.
 For AB, you have both N-acetyl
galactosamine and another galactose
moiety that is bonded to the galactose.
Fucose is also important to dictate that
you have this H antigen.
 Let’s go back again to the RBC precursor

structure. To what I’ve previously
mentioned, in this precursor structure we
have glucose galactose and acetyl
galactosamine and galactose.
 The H antigen is also important. The
product of H antigen is the product of this
enzyme L-Fucosyl Transferase enzyme  If you don’t have any H antigen, the reason
which is a product of the H gene. for that you don’t have H antigen is because
 L-Fucosyl Transferase enzyme adds of that absence of L-Fucosyl transferase
another fucose moiety in the terminal enzyme, you won’t form any antigen A or
portion of the precursor substance. B.
 As you can see here type A or type B  Because in order for the A antigen to be
antigen contains fucose. called an A antigen, you need to have
 That fucose is required for the a fucose molecule.
completion of A antigen or B  If you don’t have that fucose, N-acetyl
antigen. galactosamine will not be added or the
 So, it is a requirement in order for your A galactose for type B will not be added.
or B antigen to form. H antigen basically it’s  Even if it's just type O meaning you
just the fucose moiety that is bound to the do not have N-acetyl galactosamine
galactose terminal portion of your precursor or galactose, you still need fucose in
substance and what enzyme is responsible order for it to be called a true blood
for the addition of fucose moiety is the L- type O. in Bombay phenotype fucose
Fucosyl Transferase which is the product of is not added to the precursor
the H gene. substance.
MLS 408 4
MIDTERMS
Cytogenetics
: CYTOPLASM
 In the case of bombay phenotype focus is ANTIBODIES
not added to the precursor substance. It is
only just the precursor substance.
 Blood plasma is packed with proteins called

 Just like in the picture, the bombay antibodies
phenotype there's no focus. It would  The body produces a wide variety of antibodies
appear as like it is type O but in reality it's that will recognize and attack foreign
not type O because it requires that fucos molecules.
to be called type O.
 A person’s plasma does not contain any
antibodies that will bind to molecules that are
part of his or her own body.
 If you have presence of antibodies that bind to
the part of your cell or tissue that would be
damaging. You are injuring your own cells if
you produce antibodies against yourself.
Antibodies should be made for foreign
substances or from microbes to be attacked by
our immune system
BLOOD TRANSFUSIONS
 It is important to carefully match the donor and

recipient blood types.
 So for the bombay phenotype the dominant  If the donor’s blood cells have antigen that are
gene for the H group is the presence of the different from those of the recipient, antibodies
L-fucosyltransferase enzyme. in the recipient’s blood recognize the donor
 For bombay phenotype you would have blood as foreign
a homozygous recessive H.  This triggers an immune response resulting in
 And if you have homozygous for the blood clotting or agglutination
bombay phenotype you are not
adding any fucos moiety to the
precursor substance. In order for a
blood group to be called type O you
need to have that fucos moiety.
ANTIGENS
 An antigen is a protein (encoded from the right

enzyme) that “sits” on the surface of your RBC.
 There are 2 different blood antigens, A and B.
 If you have the A antigen, you have type A
blood.
 If you have the B antigen, you have type B
 For example, if we have a person having type
blood.
A and type B, the person type B is the one who
receives type A blood.
MLS 408 5
MIDTERMS
Cytogenetics
: CYTOPLASM
 What happens if you combine or if you PROBLEM 2
give a type B patient with type A blood?
 Show the cross
 Since your type B individual contains
between a mother
antibody A in their plasma if they
who is heterozygous
receive a type A blood the antibody A
for type B blood and a
will bind to the antigen A is found on the
father who is
red blood cell of the type A this will form
heterozygous for type
now clumping of the donor's cell and
A blood.
this will result in blockage of small blood
 Genotypes:
vessels. There will be thrombosis and
 IAIB (1); IBi (1); IAi (1); ii (1)
also the red blood cells will burst
 Ratio: 1:1:1:1
because it will cause a cascade of
 Phenotypes:
immune response against this antibody
 type AB (1); type B (1); type A (1); type
complex formation.
O (1)
PROBLEM 1  Ratio: 1:1:1:1
 For another example if we have a mother who
 Show the cross
is heterozygous for type B blood and a father
between a mother who who is heterozygous for type A blood
has type O blood and a  The gene type of father (green box) and the
father who has type AB genotype of the mother (violet box) since
blood heterozygous showing the result independent
 Genotypes: punnett square in terms of independent
 IAi (2) IBi (2) assortment
 Ratio: 1:1  Your genotypic ratio for having a
 Phenotypes: codominant A and B genotype is around
 type A blood (2); type B blood(2) 25%, your probability of having a
 Ratio: 1:1 heterozygous B genotype is also 25% and
 So let's have this problem for multiple alleles your probability of having heterozygous A
so show the cross between a mother who has genotype is also 25% and your probability
blood type O and a father who has type AB of having an homozygous recessive O is
blood also 25%
 Now for the genotype of type O again we have  You have a ratio of 1:1:1:1 for this
only one possible genotype for type O it's the genotype
two small letter i.  In terms of the phenotype of this one is
 Father who has type ab the genotype for AB type AB so that's 25% the phenotype for
is isoglutamine A and isoglutamine B. The this one is type B the phenotype for this one
father (green box) and the mother's (violet is also type A and the phenotype for this
box) genotype and in combination in with one is O so you have 1:1:1:1 phenotypic
respect to the independent assortment by ratio for this type of problem.
mendel, you would result into this finding
 In terms of genotype you have 50%
possibility of having this genotype this
heterozygous A and you have also 50%
chance of having this type of genotype
the heterozygous B
 In terms of the phenotype you have
50% chance of having blood type A and
50% chance of having type B in your
offspring, say from if a person if it if the  This table shows you the relative abundance of
mother is type O and the father has type blood types where blood group a is around 40
AB it has a 50- 50% chance that their to 42%, for type b it's around 10 to 12%, for
children will be type B 50-50% chance type a b it's 3 to 5%, for type o it's 43 to 45%
that their child will be type B but there's
0% chance that their offspring will
either be type O or type AB.
MLS 408 6
MIDTERMS
Cytogenetics
: CYTOPLASM
RH BLOOD GROUP SYSTEM RH BLOOD GROUP AND RH
INCOMPATIBILITY
 The Rhesus factor gets it's name from
experiments conducted in 1937 by scientists  A person with Rh- blood does not have Rh
Karl Landsteiner and Alexander S. Weiner. antibodies naturally in the blood plasma.
 Involved Rabbits which when injected with the
Rhesus monkey's red blood cells, produced an
antibody
 Anti-Rh (reacted also with most human red
cells).
 Most people (about 85%) have a positive Rh
factor
 Rh is expressed as either positive or negative.
 The Rh factor, like other antigens, is found on
the surface of the red blood cells.  If this is the blood group/blood type, if it is
 Positive (+) allele is dominant to negative (-) Rh Positive, the possible genotypes are
allele homozygous dominant R (RR) or
 Rh +: you have the protein heterozygous dominant R (Rr) and the
 Rh-: you don't alleles produced for this type of genotype
(RR) is dominant R and for this type of
genotype (Rr) is either dominant (R) or
recessive (r).
 For Rh negative, the only genotype is the
homozygous recessive r (rr) and allele
produced is always the recessive r.
THE RH ISSUE
 The illustration for RH negative you don't have
that protein that's found the RBC  The Rh factor is a very notable concern
 For example: especially for those mothers who are Rh(-). The
problem would rise if the mother is Rh(-) and
Mother Father Child the baby is Rh(+).
Rh- Rh+ Rh+
Rh- Rh- Rh-
 If the mother is Rh negative and the father
is Rh positive the child will be Rh positive
 The mother is Rh negative and the father is
Rh negative also you would have a child
that is Rh negative because again the
positive allele is dominant to the negative
RHESUS FACTOR
 If a person has either two (+) genes for Rh or

one (+) and one (-) Rh gene, they will test
Rh(+).
 A person will only be negative if they have two
(-).
 One of the basic difference between ABO and  This illustration shows you a mother that is
Rh systems is that the Rh antibodies are not Rh(-) and the baby is Rh(+).
natural i.e. they are not present at birth but are  During the first pregnancy, there will be no
synthesized in Rh negative persons in response problem because the mother will be
to the presence of Rh-antigen. exposed to the Rh antigen if her baby is
 Rh antigens are transmembrane proteins with Rh(+). Again, Rh positivity is a dominant
loops exposed at the surface of red blood cells. factor.
 They appear to be used for the transport of  If this mother was married to a husband
carbon dioxide and/or ammonia across the that is Rh(+) most likely their child will be
plasma membrane. Rh(+) as well, there is a greater chance
that their child will be Rh(+) especially if it
MLS 408 7
MIDTERMS
Cytogenetics
: CYTOPLASM
is homozygous dominant for the father, if STATISTICS
it is heterozygous dominant there is a 50%
O+ 1 in 3 persons (most
chance that their child can be homozygous
common)
recessive or heterozygous for positive.
During the first pregnancy, this will impose O- 1 in 15 persons
the mother to be exposed to the Rh antigen A+ 1 in 3 persons
of the child. A- 1 in 16 persons
 During this process, the exposure of the B+ 1 in 12 persons
Rh(+), the immune system of the B- 1 in 67 persons
mother will produce anti-Rh antibodies. AB+ 1 in 29 persons
These anti-Rh antibodies are AB- 1 in 167 persons
synthesized by our immune systems as (rarest type of blood
a response to the exposure of the Rh(+) group)
of the child.
 During the possible subsequent pregnancies,
since the mother already produced antibodies,
and if their child is an Rh(+) child, what
happens is that the antibodies that were
formed by the mother can cross the placenta
and enter the fetus whcih will cause hemolysis
and hydrops fetalis for the child or damage to
the fetus.
BLOOD TYPES AND RH TYPE QUESTION
 Example: A woman heterozygous for blood

type A and heterozygous for the rhesus allele,
Rh(+), has a child with a man with type O blood
who is Rh(-). What is the probability that their
child will have blood type A, Rh(+)?
 Answer: There will be a 50% chance.
 Why? Remember that the mother is
type A and it is heterozygous meaning
it is isoagglutinin A with a recessive
antigen or recessive allele that is O.
 For in terms of rhesus allele, the
mother has a dominant positive
copy and a recessive copy of the
rhesus allele.
 You have now a man who is type O,
of course if it is type O it should be
homozygous recessive with O and
Rh negative the man is also
homozygous recessive for the
rhesus factor.
 If you will plot that in the punnet
square, you will have 50% chance of
having a child with type A and 50%
chance of getting type O, and in terms
of the Rh positivity, since it is
heterozygous for Rh(+) for the mother
then you will have 50% chance of
having Rh(+) as the phenotype and
50% chance of having 50% Rh(-)
phenotype.
MLS 408 8
MLS 408 — CYTOGENETICS MIDTERMS
POWERPOINT | MARCH 19, 2022 A.Y. 2021- 2022
WEEK 9: PATTERNS OF INHERITANCE PART 1: PEDIGREE CONSTRUCTION AND PROBABILITIES
REVIEW ON MEDELIAN INHERITANCE PATTERN
• The Three Mendelian Laws

o The Law of Complete Dominance
▪ Wherein a particular allele of a gene or if it
entirely hides the other allele, then it is • A pedigree consists of lines that connect shapes
considered a dominant allele, and the other • VERTICAL LINES represent Generations
which is hidden or concealed is considered • HORIZONTAL LINES represent Partnerships
a recessive type of allele.
o The Mendel's Law of Independent Assortment
o Mendel's Law of Segregation
▪ These laws were figured out,
conceptualized by, or hypothetically done
theorize by Gregor Mendel through the use • Shapes connected by vertical lines that are joined
of his garden piece. horizontally represent siblings.
NOTE: • SQUARES indicate Males
• The more that a number of genes are crossed, the • CIRCLES indicate Females
more complicated it gets. • DIAMONDS indicate that Sex is Unknown.
• It is hard for humans to assigned different types of
genotypes because:
o There are only a few offspring available for study.
o We do not actually do experimental meetings;
instead, we use charts. • AFFECTED INDIVIDUALS
o The shape is shaded if a single gene in
PEDIGREE CHART questions is present in an individual.
• Family Tree o That individual carries the gene or it displays the
• Way of exploring the mode of inheritance of phenotype of that particular genotype.
phenotype in humans.
• Traditional way to study inheritance
o By analyzing a pedigree, we may be able to
predict how the trait understudy is inherited.
o Example: Is it due to a dominant or recessive • PARENTS
allele? Is it or if particular child is male, is he o Connected by a horizontal line.
possible carrier of a gene?
• Represents relationships
• Pedigree in genetics differs from a family in
Genealogy and from a Genogram in social work.
• Diagram that shows occurrence and appearance of • CONSANGUINEOUS PARENTS (related)
phenotypes of a particular gene. o They are parents that are related either they are
o Must include ancestors and their known siblings, cousins and etc.
descendants
• Presentation of family information in a more readable
and understandable chart
• Pedigree construction = Reflection of family
history. • FRATERNAL TWINS (DIZYGOTIC)
o Sex may be the same or different
o If an offspring that is yielded represents this
shape.
HOW TO CONSTRUCT A PEDIGREE CHART
THE AVENGERS SQUAD 1

PEDIGREE
• IDENTICAL TWINS (MONOZYGOTIC)

o Sex must be the same
o Both must have the same sexuality.
• The particular shape used is circle which means they
are identical female twins but if it is square in other
cases then they are identical male twins.
• If triplets → shapes will be tripled (so on).
• MULTIPLE INDIVIDUALS (UNAFFECTED) • The earliest pedigrees were strictly genealogical.

o Symbol is usually labeled with a couple of • Genealogical – they do not actually indicate traits.
numbers (SHOULD be in Arabic Numbers NOT
Roman Numbers). NOTE:
• ARABIC NUMBERS • Pedigree - arose in the 15th century by its
o We are talking about those individuals in bastardization of the French phrase or word “Pied de
question. grue” which means crane’s foot.
• At that time pedigrees typically depicting large family
trees, showed parents linked by curved lines to their
many of spring.
• The overall diagram by then often resembles the
bird’s foot.
• PROBAND
o Letter P that is pointing to an Affected Individual FIGURE A
o Is someone who initiates the creation of a family
o Ex.
▪ Luna is trying to create a family tree and
she has three siblings. However on her
father’s side she has another nine (9)
siblings and another four (4) siblings on her
mother’s side. The mother and father of
Luna are connected by a horizontal line and
then Luna will be connected via this
particular symbol.
▪ If you are the Proband of this family tree
then you will write P and then put an arrow
on the shape that represents you or anyone
who initiates in the creation of the
genealogical tree.
• DECEASED INDIVIDUAL
o If an individual has a slash on their symbol.
Figure A
• The picture above shows a pedigree for a highly
• HETEROZYGOUS CARRIERS inbred part of ancient Egyptian royal family of
o This symbol is shaded but not completely Cleopatra.
shaded TIME STAMP: 15:02
o We used dots to represent heterozygosity. • In the sequency above…
• Double line (pointed by the red arrow) – indicates a
consanguineous relationship
o Meaning, that the male (black arrow) and
• ROMAN NUMERALS female (green arrow) are related. They are first
o They are usually written from top to bottom which degree cousins.
represent successive generations. o The father (yellow) of the male (black), is a half-
MEMORIZE! DO NOT FAMILIARIZE! half-brother of the male (violet arrow).
o The degree of incest is really high.

FIGURE B
Figure B
• Figure B – in contrast to the Egyptian pedigree, a
family with polydactyly (extra fingers and toes)
extends laterally, with many children and depiction of
the family’s trait in the filled-in symbols.
o Filled-in symbols – known to carry polydactyly
o They do not necessarily reflect the genotype but
we can say that in this set of pedigree, that the
gene is dominant.
Figure A.
• 6 inbreeding is being depicted above (red checks).
• Cleopatra married her brother, Ptolemy XIII.
o High degree of inbreeding
o We do not know if male (green arrow) is a
NOTE: heterozygote or homozygous recessive.
• High Inbreeding causes the expression of fatal o But it has been expressed that the females
recessive traits. (black arrow) carries polydactyly.
• The first generation has two daughters and each one
• Figure A – A partial pedigree of Egypt’s Ptolemy marrying (not necessarily known if heterozygous
dynasty shows only genealogy, not traits. It appears recessive or homozygous recessive). However, in the
almost ladder like because of the extensive third generation offspring, the filled in symbols
inbreeding. From 323 BC to Cleopatra’s death in 30 carries the gene.
BC. • We can say that the gene is dominant. As long as the
• The family experienced… gene is present, it will be expressed. Therefore it is a
o One pairing between cousins related through dominant gene.
half-brothers - Generation III
o Four brother-sister pairings- Generations IV, VI, NOTE:
VIII, and X. • Since it does not skip generations, it is a dominant
o One Uncle – niece relationship - Generations VI gene.
and VII.
o Cleopatra married her brother. Ptolemy XIII, MARRIAGE OF COUSINS ON 3RD GENERATION
when he was 10 years old. These marriage were
and attempt to preserve royal blood.
NOTE:
• In royalty, they tend to marry their cousin, uncles,
niece, nephews, and aunts, to preserve royal
bloodline.
• They believe that, to keep the bloodline pure you
must mate with someone that also carries the same
blood as you.
• The pureblood mentality made a very fatal
expression of genes. Once expressed, they can
cause impotence, infertility sometimes. Or there are
changes or differences in their behavior; they are
mentally incapable, which is critical.
• ORANGE (III) they are first degree cousins because

they share one set of grandparents (I/ RED COLOR).

• They share one set of parents

• There is a risk passing on the same recessive alleles
which could be deleterious since they are expressed
the probability of them carrying the gene.
PEDIGREE CHART CONT…

• Pedigrees easily display Mendel’s Laws
• Visual learners can easily identify mode of
inheritance in a pedigree.
• Use of pedigree charts:
o Establish the probability of a child having a • Given this information, if the mother is a
particular disorder or condition. homozygous dominant (AA), while the father is a
o Discover where the genes in question are heterozygous dominant (Aa) or vice versa, the one
located (x, y, or autosomal)
in the red circle will not be an albino.
o Determine whether a trait in question is dominant
or recessive. • Since na express ang recessive allele (aa), you will
know that both parents are heterozygous dominant
PEDIGREE CHART: SAMPLE CONSTRUCTION (Aa) because if you cross them in the punnet
• Consider a particular trait (one trait) square, aa will be expressed.
• Condition of Interest: ALBINISM
o Is a condition in which there is a mutation in one
of several possible genes, each of which helps to
code for the protein melanin. This gene is
normally active in cells called melanocytes
which are found in the skin and eyes.
o Involves a significant reduction or absence of the
production of melanin, giving affected individuals
a lack of normal coloration in their skin/eyes.
o It is an autosomal recessive type of gene. • aa will not be expressed if only one of the parents is
▪ Doesn’t mean you carry the gene; it does not heterozygous dominant because if one of the
necessarily mean that you will be an albino. parents is hetero and the other is homo dominant
However, if you carry the gene in both then the dominant allele will of course be concealing
chromosomes, then it will be expressed aa.
because the other allele will not be able to
mask it because it is absent.
• Use A/a to represent dominant/recessive forms of
albinism.
SAMPLE PROBLEM
• Two normally- pigmented parents have 3 children.
The first child (girl) and their second child (boy) have
normal pigmentation. Their third child (girl) is • Given this information, we can say that both
pigmented male and they have four children. The first parents are heterozygous for the albino gene
three (two girls and a boy) have normal pigmentation.
• The only time that you can say that a particular set
Their fourth child (girl) has albinism like her mother.
of parents are heterozygous or homozygous is if
Construct a pedigree chart.
• Circle – Girl you look at the children.
• Square – Boy
• The 2nd generation red circle marries a normal guy

and their offspring’s (3rd generation) so, at least
• 3 → this girl here is aa
one of them is albino.
• 1 & 2 → you do not know if homozygous dominant
(AA) or heterozygous dominant (Aa) but you do
know that one set of the alleles is at least a
dominant allele.

SAMPLE PROBLEM
• Deshawn has sickle cell anemia. His unaffected
parents, Kizzy and Ike, must be heterozygotes for
the trait. Deshawn's sister, Taneesha, also healthy,
is expecting her first child. Taneesha's husband,
• Antoine, has no family history of the disease.
Taneesha wants to know the risk that her child will
inherit the mutant allele from her and be a carrier.
• This is a monohybrid cross
• If this (red filled circle) is aa and this (square) is
AA then their children will all be heterozygous
dominant (Aa). see punnet square below.
• This (square) should be Aa so • Two questions:

that: 1. What is the probability that Taneesha is a
carrier?
2. What is the total probability that her child is
also a carrier?
• Given this set of

information, we can say
that the father is a
heterozygous carrier/
heterozygous albino
(see 2nd generation)
PEDIGREE CHART: CONDITIONAL PROBABILITY

• Calculate the probability of an upcoming child.
• This is the case where genetic counselors are asked
to predict the probability that a condition will occur in • Use a punnet square since we are using a
an individual. monohybrid cross.
• Mendel’s laws will be used as well as pedigrees and • Kizzy and Ike are both heterozygous.
punnet squares.
For question number 1:
• Condition of interest: SICKLE-CELL ANEMIA
• Sickle cell anemia is one of a group of inherited
disorders known as sickle cell disease. It affects the
shape of red blood cells, rendering them unable to
properly carry oxygen in the blood. These sickle
cells also become rigid and sticky, which can slow or
block blood flow. It is an autosomal recessive gene.
• Given this, you have four conditions: 1 homozygous

dominant, 2 heterozygous dominant, and 1
homozygous recessive.
• Out of these 4, we eliminate homozygous dominant
because if Taneesha is a homozygous dominant,
then she will not be a carrier; there is a 0%
probability that she will be a carrier because she
does not have the allele (the small s).

• However, since we are talking about what is the • Sometimes it is difficult to interpret because there
probability that that she is a carrier, we will we will are observations that does not reflect the family tree,
only look at three boxes here the heterozygous this family tree is therefore not totally correct
dominant and the homozygous recessive because patients hesitate to supply the information
• Since she is normal, we eliminate the recessive necessary.
allele (ss). Therefore, Teneesha has 2 out of 3 • Patients sometimes hesitate to give information
chances of being a carrier. because of the familial relationships which can
• Answer: 2/3 = 66.67% complicate it.
• For example, adoption. The adopted child does not
For question number 2: know that he/she/they are adopted. So if adopted
siya, then that particular person carries an entirely
different set of genes from his/her/their parents
which makes the family tree incorrect or in certain
cases, the adopted child does not know their
parents, so of course they would not be able to trace
back.
• Also, children born out of wedlock, sometimes
they do not have the necessary information because
sometimes they do not know who their father is kasi
hindi sinabi ng mother (and vice versa). The family
• Since we will only consider the heterozygous tree is incomplete.
dominant, we will now use it like this: S dominant • Blended families. They do not know that the
and the recessive s. relationship is consanguineous.
• Antoine, since he does not have a family history of • Unable to trace families back far enough to
sickle cell anemia, therefore, he is a homozygote reveal a mode of inheritance. An example of
dominant carrier. So, if Taneesha is a carrier, the children away from their homeland. They know their
chance that the fetus is a carrier is 2 out of 4 or ½ parents but they do not know their aunts, uncles or
grandmothers and grandfathers.
Please listen to 40:34. Thank you!
• The chance that fetus is a carrier is 2 out of 4 or ½ if

Taneesha is a carrier but we do not know if she is a
homo dominant or hetero dominant so we also put
into consideration the percentage/probability of the
first punnet square (Kizzy and Ike (her parents)) to
calculate for the total probability that Taneesha’s
child is also a carrier.
• The total probability that the child

is a carrier is 2/3 x ½ = 2/6 or 1/3
(33.33% total probability)
• Answer: 33.33% total
probability
*this is for conditional probability
PEDIGREE CHARTS: DIFFICULTIES

• Pedigrees may be difficult to construct or interpret
o Patients sometimes hesitate to supply
information.
o Familial relationships can complicate by:
▪ Adoption
▪ Children born out of wedlock
▪ Blended families
▪ Unable to trace families back far enough to
reveal a mode of inheritance

MLS 408 | CYTOGENETICS
WEEK 9&10: Patterns of Inheritance
PART 1 TOPIC GUIDE ▪ Since we will be creating a family tree, the
• Pedigree Charts: Construction and Computation construction of pedigree is therefore a
o Pedigree Chart reflection of family history
▪ Symbols in Pedigree Chart o Presentation of family information in a more
▪ Unusual Pedigrees readable and understandable chart
▪ Sample Construction o Pedigree construction = reflection of family
o Conditional Probability history
o Difficulties • Questions addressed:
o Is it due to a dominant or recessive allele?
QUICK REVIEW o If a particular child is male,
o is he a possible carrier of a gene that is in
question?
• When many pedigrees for the same trait are studied,
we can often ascertain the mode of inheritance
o A human pedigree that serves the same purpose
as one for purebred dogs or cats or
thoroughbred horses
• Pedigree Genetics indicate disorders or traits, as
well as relationships and ancestry, which is why it
differs from a family in genealogy or from a
• 3 Medelian Laws: genogram in a social work since
o Law of Complete Dominance o It is often useful for MedTechs like us to
▪ wherein if a particular allele of a gene that understand pedigree. Aside from geneticists
entirely hides the other allele, then it is which assists in the creation and interpretation of
considered dominant allele and the other the family tree, we may be able to provide sound
which is hidden or concealed is considered a conclusions for the other scientists to come up
recessive type of allele. with a very solid family tree
o Law of Independent Assortment • NOTE: It is difficult to be assign humans to different
o Mendel’s Law of Segregation types of genotypes because there are only a few
o These laws were theorized by Gregor Mendel offspring available for study
through the use of his garden peas. o There are no experimental meetings. Only charts
• Trihybrid cross involves many probabilities. The and diagrams utilized to explore how to
more the number of genes is crossed, the determine the mode of inheritance of
complicated it gets. phenotypes in humans
PATTERNS OF INHERITANCE SYMBOLS IN PEDIGREE CHART

• An extension of mendelian inheritance patterns with • A pedigree consists of lines that connect shapes
the application of a number of concepts that is
• Vertical lines represent generation
applicable to humans and animals (ex: dogs and
• Horizontal lines represent partnership
horses)
siblings • Shapes connected by
• Autosomal Inheritance Patterns – the probability that
vertical lines that are
a certain child will carry a certain gene from his or
joined horizontally
her grandparents
represent siblings
• Sex-linked Inheritance Patterns – the probability pf
• 1, 2, 3, and 4 are all
what gene is carried linked to the biological sex
siblings – in birth order
• Mitochondrial Inheritance Pattern – a different
with 1 being the eldest
inheritance pattern from the mendelian inheritance
and 4 being the youngest.
pattern
Male Squares indicate males
PEDIGREE CHART: HUMANS
• The traditional way to study inheritance has been to
construct a family tree or known as a pedigree chart Female Circles indicate females
aka family tree
• By analyzing a pedigree, we may be able to predict
how the trait under study is inherited Sex Unknown Diamonds (basically a square
that is inverted about 45o)
Contents of Pedigree Chart: indicates that the sex is
• Diagram that shows occurrence and appearance of unknown
phenotypes of a particular gene
o Must include ancestors and their known
descendants
BS Medical Laboratory Science COCOLEMON_BSMLS 2H | 1
San Pedro College Prelims| 2nd Sem | A.Y. 2021-2022
Affected Individuals Usually, we talk about single side is four individuals, the
genes when creating mother and father is
pedigree charts, if a single connected by a horizontal
gene in question is present in line. Then, you will be
an individual, that individual connected via this particular
will be represented as a symbols here. To say that I
shape that is shaded am the pro band of this family
tree, you will write p and then
If it’s a circle with a shade put an arrow on the shape
then it’s a female that carries that represents me or anyone
the gene or it displays the who initiates in the creation of
phenotype of that particular the genealogical tree)
genotype Deceased individual (in this
case, a female)
Unrelated Parents Parents (unrelated) are
connected by a horizontal line Heterozygous carriers
o Usually shaded but not
completely shaded
Related Parents Consanguineous parents o Sometimes we do not use
(related) – parents that are these dots, we use half
related. They are either shadings to represent
siblings, cousins, or in an heterozygosity
aunt – uncle – nephew – Successive generations
niece relationship o Usually written from top to
bottom which represents
Fraternal Twins Fraternal (dizygotic) twins successive generations`
(sex may be the same or
different) NOTE: MEMORIZE! DO NOT FAMILIARIZE
Identical Twins Identical (monozygotic) twins

(sex must be the same) • The earliest pedigrees were strictly genealogical
o Genealogical – They do not usually indicate
traits
Triplets If its triplets, it’ll be 3 circles
UNUSUAL PEDIGREES
connected by the horizontal
line
Multiple individuals
(unaffected)
o Usually label it with
numbers
o If you see a particular
pedigree that has
numbers then those
numbers represent this
arabic number
Proband (in this case, a male)
o Someone who initiates
the creation of a family
tree
a. A partial pedigree of Egypt's Ptolemy dynasty
shows only genealogy, not traits. It appears
(ex. I am the one who is trying
almost ladderlike because of the extensive
to create a family tree, I have
inbreeding.
three siblings, and on the end
➢ From 323 BC to Cleopatra's death in 30 BC,
of my parents on my father’s
the family experienced one pairing between
side I have nine siblings,
cousins related through half-brothers
mother’s side is another set of
(generation Il), four brother-sister pairings
four siblings, pedigree chart is
slightly complicated because (generations IV, VI, VIII and X), and an uncle-
niece relationship (generations VI and VIl).
on the other side you have
Cleopatra married her brother, Ptolemy XIll,
nine individuals and the other

when he was 10 years old! These marriage

patterns were an attempt to preserve the royal
blood.
b. In contrast to the Egyptian pedigree, a family with
polydactyly (extra fingers and toes) extends
laterally, with many children and depiction of the
family’s trait in the filled-in symbols.
c. This pedigree shows marriage of first cousins.
They share one set of grandparents, and therefore
risk passing on the same recessive alleles to
offspring.
Image: Number of inbreeding = 6

• Cleaopatra has married her brother, Ptolemy
XIII, indicating a very high degree of
inbreeding
• Inbreeding causes the expression of fatal
recessive traits
Image: Shows a pedigree for a highly inbred part of

the ancient Egyptian royal family of Cleopatra
• The term pedigree arose in the 15th century. It is
the bastardization of the French.
o “pied de grue” which means crane’s foot
• Pedigrees at that time, typically depicting large
family trees. Showed parents linked by curved
lines to their many offspring.
• The overall diagram resembles a bird’s foot
• The double line (red arrow) indicates a
consanguineous relationship. That means that
male (blue arrow) and female (green arrow) are • The Family experienced one pair, one pairing
related between cousins related through half-brother’s
o They are related because they are first generation three and then four brother-sister
degree cousins pairings from generation four, generation six,
o The father of the male is the half-brother of generation eight and ten.
this male (purple arrow) • In royalty they tend to marry their own cousins,
o The degree of incest is really high uncles, niece, nephews, aunts to preserve their
royal bloodline because they believe before that to
keep the bloodline pure, one must mate with
someone who carries the same blood.
• These genes once expressed that it can cause
impotence, infertility
• The most fatal is there are difference in the
behavior and sometimes they are violent

grandparents. Since they share one set of
grandparents, they risk passing on the same
recessive alleles here (arrow blue) which could be
the deleterious(harmful) since they are expressed.
• The probability of them carrying the gene, we will
know later because we will try to come up with the
computation on how to come up with these types
of alleles.
PEDIGREE CHART
• In contrast to the Egyptian pedigree, A family with
• Pedigrees easily display Mendel’s Laws.
polydactyly when say polydactyly, poly many
ductile meaning extra fingers and toes • Visual learners can easily identify mode of
inheritance in a pedigree.
• Family in polydactyly extends laterally with many
children and depiction the family straight in the • Use of pedigree charts
filled in symbols o Establish the probability of a child having a
particular disorder or condition
• Filled in symbols meaning they are known to carry
▪ If you already know how to do the probability
the polydactyly check using the mendelian inheritance pattern,
• They do not necessarily reflect the genotype but it then you will know the probability
can be concluded from this set of pedigree that o Discover where the genes in question are
gene is dominant. located (x, y, or autosomal)
• 1st This one here is heterozygote o Determine whether a trait in question is dominant
• 2nd This one here if this particular one here is or recessive
heterozygote or a homozygous recessive
• However, it has been expressed here that these SAMPLE CONSTRUCTION
females carry polydactyly. (Arrow blue) As with any genetic computation or analysis, we must
• This first-generation parent here has two consider a particular trait.
daughters and each one marrying a person that
we do not necessarily know if they are Condition of Interest: ALBINISM
homozygous recessive or they’re heterozygous.
However, as you can see on their offspring “third
generation offspring” on this case here (encircled
red) two sons; (encircled blue) four daughters and
one son, all of them carries the gene; we can say
that the gene is dominant. As long as the gene is
present then it will be expressed, therefore, it is a
dominant gene
• But what type of inheritance pattern you would be
able to express from here or to infer from here is
we don’t know yet because will be talking about
the inheritance pattern later if it is autosomal
dominant, autosomal recessive, sex link x or y or
mitochondrial inheritance • Albinism is a condition in which there is a mutation in
• But basically, we know that this gene since it does one of several possible genes, each of which helps
not skip generations, it is a dominant gene to code for the protein melanin (Melanin is what
gives us our brown or black color). This gene is
normally active in cells called melanocytes which are
found in the skin and eyes. Albinism involves a
significant reduction or absence of the production of
melanin, giving affected individuals a lack of normal
coloration in their skin/eyes. It is an autosomal
recessive type of gene.
• That is if you carry the gene, it doesn’t necessarily
mean that you will be an albino. However, if you
carry the gene in both chromosomes (homologous),
if the two chromosomes carry the albino gene, then it
will be expressed, because the other allele will not
be able to mask it because it is absent.
• Lastly, we have this pedigree which shows • Example:
marriage of first cousins on the third generation o Use A/a to represent dominant/recessive forms
(encircled red), they share one set of of albinism
o Two normally-pigmented parents have 3
children. The first child (a girl) and their second
child (a boy) have normal pigmentation. Their
third child (a girl) is an albino. That girl marries a
normally pigmented male and they have four
children. The first three (two girls and a boy)
have normal pigmentation. Their fourth child (a
girl) has albinism like her mother. Construct a
pedigree chart.
• Since aa is a recessive allele, we will know that both

parents are heterozygous if they are crossed in the
Punnett square. If they are heterozygous, it will be
expressed. aa will not be expressed if at least one of
the parents is heterozygous.
➢ Blue box: Generation 1 parents

➢ (circle – mother, square – father)
➢ Red box: children of generation 1 parents
➢ Green box: eldest daughter
➢ Purple box: second born son
➢ Orange box: youngest daughter (albino)
• The youngest daughter is an albino, so it is a

dominant autosomal recessive gene. If the two • If only one parent is heterozygous then the dominant
chromosomes that carries the gene has the allele will of course be concealing the aa allele.
recessive allele, then it will be expressed.
• Given that particular information then we can say

that both parents are heterozygous for the albino
• From this particular set of information, you know that gene. The only time that we can say that a particular
the youngest daughter is aa and the eldest daughter set of parents are heterozygous or homozygous is if
is AA, which we do not know if homozygous you look at the children.
dominant or heterozygous dominant. The same
applies for the son.
• But we do know that one set of the alleles is at a
least dominant allele, so given this information, if the
mother is a homozygous dominant (AA) while the
father is heterozygous dominant (Aa), or vice versa,
then we would know that the youngest daughter will
not be an albino.

Condition of interest: SICKLE-CELL ANEMIA
• Sickle cell anemia is one of a group of inherited

disorders known as sickle cell disease. It affects the
shape of red blood cells, rendering them unable to
properly carry oxygen in the blood. These sickle cells
also become rigid and sticky, which can slow or block
blood flow. It is an autosomal recessive gene.
• Sickle shape = quarter moon shape
• An autosomal recessive gene similar with albinism
SAMPLE PROBLEM
• Now, the youngest albino daughter marries a normal Deshawn has sickle cell anemia. His unaffected
male, but their offspring (third generation), at least parents, Kizzy and Ike, must be heterozygotes for
one of them is an albino. the trait. Deshawn’s sister, Taneesha, also healthy,
is expecting her first child. Taneesha’s husband,
Antoine, has no family history of the disease.
Taneesha wants to know the risk that her child will
inherit the mutant allele from her and be a carrier.
a a
A Aa Aa
A Aa Aa
• Again, this is a monohybrid cross.
• All of its children should only be heterozygous;
however, one child is a homozygous recessive carrier
(green box) so it should be:
• Antoine has no family history of the disease; it
a a can be assumed that Antoine carries a dominant
A Aa Aa allele.
a aa aa • Taneesha now wants to know the risk that her child
will inherit the mutant allele from here and be a carrier.
• Given this set of information, it can be said that the o The problem of Taneesha here is that she
father is a heterozygous albino. wants to know the risk or the probability that
her child will inherit the mutant allele but for
her to know the risk of her child, she must first
be able to determine if she is a carrier or not.
• What is the probability that Taneesha is also a carrier?
o This problem has two questions:
1. What is the probability that Taneesha is a
carrier?
2
➢ = 66.67%
3
2. What is the total probability that her child is
also a carrier (sickle cell anemia)?
CONDITIONAL PROBABILITY ➢ If Taneesha is a carrier, the chance that
fetus is a carrier is two (2) out of four (4)
• To calculate the probability of an upcoming child. 1
• This is the case where genetic counselors are asked or
2
to predict the probability that a condition will occur in a
particular individual. 1. What is the probability that Taneesha is a
• Mendel’s laws (complete dominance, independent carrier?
assortment, segregation), pedigrees, and Punnett • Since this is a monohybrid cross, we can use the
squares will all provide us clues as do logic and Punnett square method.
common sense.

2. What is the total probability that her child is also
a carrier?
• Since we will only consider the heterozygous

dominant (Ss), then we will use it to plot for
Taneesha. Then, since Antoine does not have a
family history of sickle cell anemia, therefore he is
a homozygous dominant “SS”.
• Answer: If Taneesha is a carrier, the chance
that fetus is a carrier is 2 out of four or ½
• It is the chance that the fetus is a carrier, if Taneesha

Kizzy is heterozygous (Ss) and Ike is also is a carrier. But we do not know if Taneesha is
heterozygous (Ss). Given this, we have four homozygous dominant or heterozygous dominant.
conditions: Therefore, we should also take consideration the
1. Homozygous dominant (SS) – 1 percentage/probability of Taneesha being a carrier
2. Heterozygous dominant (Ss) – 2 (from Krizzy X Ike) to calculate the total probability.
3. Homozygous recessive (ss) – 1 The total probability that the child is a carrier is 2/3 (2
out of 3, from Krizzy X Ike) x ½ (from Taneesha X
Antoine) is equal to 2/6 or 1 out of 3 chances. 1 out
of 3 is 33.33% total probability. That would be the
probability (1/3 or 33.33%) that the child will be a
carrier.
• Out of the four (4) conditions, we eliminate the

2/3 x 1/2 = 2/6 or 1/3 or 33.33%
homozygous dominant (SS) because if Taneesha
is homozygous dominant then she will not be a PEDIGREE CHARTES: DIFFICULTIES
carrier. This means that there is 0% probability • It is often difficult for the pedigree charts to be
because she does not have the “s” allele constructed.
• However, since we are talking about the • Pedigrees may be difficult to construct or interpret
probability that she is a carrier, we will only look at because there are observations that does not reflect
3 boxes. Since Taneesha is normal, we eliminate the family tree.
the homozygous recessive (ss). • This family tree is therefore not totally correct
• Answer: Thus, out of the 3 boxes, there are because patient sometimes hesitate to supply
only 2 out of 3 chances that Taneesha is a information necessary.
carrier • Familial relationships which can complicated by:
. o Adoption
▪ the child does not know that he/she is
adopted. If he/she is adopted, then that
particular person carries an entirely different
set of genes from his/her parents which
makes the family tree is incorrect or in
certain cases, the adopted child does not
know his/her parents
o Children born out of wedlock
▪ sometimes they don’t have the necessary
information and they do not know who their
mother/father is. For example, the child does
not know his father, he/she won’t be able to
create the family tree on the father side, only
in the mother side. If they are not able to
give information about the father side, the
genealogy will be incomplete. Family tree
will not be created properly and completely.
o Blended Families
▪ They do not know that their relationship is
consanguineous, it becomes complicated.
o Unable to trace families back far enough to
reveal a mode of inheritance
▪ This is an example of children being away
from their homeland, even though they know
their parents, they don’t know their uncles
and aunties and grandparents.

PART 2 TOPIC GUIDE
• Pedigree Charts: Construction and Computation
o Sample Construction
▪ Normal Genetic Sequence
▪ Genetic Mutations • Silent mutation involves change in a single
o Conditional Probability nitrogenous base.
• Pedigree Analysis: Patterns of Inheritance o Remember the codons in the NORMAL
o Autosomal Inheritance Patterns GENETIC SEQUENCE are found in your DNA
▪ Autosomal Dominant Disorders and they are transcribed into MRNA. And that
▪ Autosomal Recessive Disorders MRNA are then translated into the different
o Sex-Linked Inheritance Patterns types of amino acids.
▪ X-Linked Dominant • In your DNA if one of the nitrogenous base is
▪ X-Linked Recessive changed, and the resulting MRNA does not
▪ Y-Linked or Holandric necessarily translate to a different amino acid,
o Other Inheritance Pattern then that is called a silent mutation. Basically,
▪ Mitochondrial what happens is that the codon in the MRNA that
▪ Multifactorial Inheritance translates to a certain amino acid does not exactly
alter the sequence of the amino acids.
PEDIGREE CHARTS: CONSTRUCTION AND • It’s not observable immediately but there’s a
COMPUTATION mutation, there’s a change.
• Basic law of inheritance: important to understand B. NONSENSE
o Allows appreciation of how conditions are
passed on in a family
▪ If you are interested in your lineage and the
possibility of you getting a particular genetic
condition from your parents and you are • Nonsense mutation is a type of mutation that
curious on the probability of you passing involves the sudden entry/translation of a stop
down a certain genetic condition to your codon.
child, you will be probing into your pedigree. o Since stop codon has been translated in the
You will be the pro band that will generate a sequence then technically the protein will be
family tree in which a particular genetic dysfunctional because it is not the full
condition will be observed. sequence of amino acids which is needed by
▪ The generation of this genetically creates a the protein for it to fold properly and for it to
reflection of how accurate the family health become functional.
history is. • Remember that proteins are very stereo specific in
o Accurate family history: valuable tool in terms of the amino acid sequence.
understanding how human conditions are o If it’s the incorrect amino acid sequence then
passed down through generations the folding would be most probably faulty, it’s
▪ These disorders are based on what we call not proper. Then all the molecules that needs
“mutations” to fit into the 3-Dimensional conformation of
• MUTATIONS: Changes in genetic sequences; if the protein will be able do that. Hence, the
mutation happens in the sex cells (gametes), there is protein will be dysfunctional, that’s nonsense
high probability that the offspring inherits the mutation.
mutation, hence a disease. • The pointed
arrow in the
SAMPLE CONSTRUCTION image (TGA)
codes for
NORMAL GENETIC SEQUENCE UGA. The DNA codon TGA is transcribed to
mRNA as UGA, which is a stop codon.
o Remember the stop codons are UGA,
UAA, and UAG.
C. MISSENSE
• normal genetic sequence does not translate of
what particular sequence, you just have a genetic
sequence which has a normal sequence of
codons or amino acids. • It involves the change in the type of amino acid
GENETIC MUTATIONS that is translated as you can see in the normal
• Silent, Nonsense, Missense, Deletion, mutation.
Insertion, Insertion and Deletion
A. SILENT
o [red arrow] GC will be paired with A
• TGC is o [green arrow] AA will pair with C
normally codes • This will call for entirely different types of amino
for cystine acids
however there is E. FRAMESHIFT (INSERTION +1) MUTATION
a point mutation
in the “T”, T is
replaced by G.
Instead of coding for cystine (TGC) it now codes
for arginine (GGC) which is entirely different amino • There is an insert of another type of nitrogenous
acid with a different property base which will shift the entire sequence into a
• If the Cystine (TGC) would have been an amino different pairing of codons. Thus, there is a
acid that has almost the same property with difference in amino acid sequence and entirely
Arginine (GGC) amino acid, if the Cystine (TGC) different folding of protein; hence, a faulty protein.
would have been Histidine, which is a basic amino F. INSERTION AND DELETION (+1 & -1)
acid, it would not have a problem with the folding
because the intermolecular forces involved in the
folding of the protein will not be that different.
o Difference lies in the side chains which will
have a different interaction based on the type • This would have been okay if it was only a silent
of functional group mutation, but it is complicated.
• Since this is Cysteine contains sulfur and it is
irresponsible for the formation of sulfide bridges CONDITIONAL PROBABILITY
for the proper folding of the secondary structure. • Mutations cause genetic disorders
• These genetic disorders runs in the family. In some
cases, the members with the same mutation may not
have the same symptoms while others have similar
characteristics. This is because gene expression is
• [red circle] Whereas Arginine, is another type of controlled by different factors such as the
basic amino acid which the basicity is important for o type of cell,
the zwitter ionic form of certain attachment sites of o the presence of other compounds,
different molecules. o and the environment in which different pressures
affect the expression of genes.
• [red circle] This one has a different function;
therefore, this is missense because cysteine is
PEDIGREE ANALYSIS: PATTERNS OF INHERITANCE
needed for the proper folding and now it becomes
• Single-gene disorders are rare but affects millions of
arginine which is important for the anchoring.
people in the world.
• Cysteine and Arginine are two different types of
o Mutations can sometimes affect only one gene
amino acids which will render a different amino
resulting to single-gene disorders
acid sequence.
• Several basic modes of inheritance exist for single-
• Since it has different sequence now, therefore its
gene disorders:
folding of protein is incorrect. Improper folding of
o Autosomal modes of inheritance
the protein will render the protein dysfunctional.
▪ Autosomal dominant
Thus, it is wrong and protein will not function to its
▪ Autosomal recessive
normal state.
o Sex-linked modes of inheritance
D. FRAMESHIFT (DELETION -1) MUTATION
▪ X-linked dominant
▪ X-linked recessive
▪ Y-linked dominant
o Mitochondrial
o Multifactorial
• There is removal of one (1) amino acid, since one
amino acid has been deleted the entire sequence
of codons will shift.
• [blue arrow] T will transfer to GC

AUTOSOMAL RECESSIVE DISORDERS
• It needs at least two copies of the gene that contains
the mutation
o Autosomal dominant: only 1 copy
o Autosomal recessive: needs 2 copies
• One of the parents should be affected by the trait
(homozygous ang parents), or if not, are carriers of
the trait (heterozygous)
AUTOSOMAL INHERITANCE PATTERNS

• 2 subtypes: Autosomal Dominant and Recessive • Typically skip a generation, affected offspring may
have unaffected parents
AUTOSOMAL DOMINANT DISORDERS • Both male and females are equally likely to be
affected
• Autosomal Dominant Disorders • Since autosomal recessives need 2 copies of the
o Needs at least one copy of the gene that gene, it could skip a generation
contains the faulty or immune, one copy of the
gene that contains the mutation for it to be
expressed.
o It only happens in autosomes and autosomes
translate chromosomes 1-22
o Does not skip a generation
• Affected offspring will have at least a parent that is
affected
• Both males and females are equally likely to be
affected
• RED CIRCLE: As you can see here in this

generation, the other has a generation and the other
does not, and has been passed at the end once
more
• In this lineage, we can say that this man here is
homozygous, because again recessive to the
disorder and need 2 copies of the gene
• His partner, the female is homozygous because the
next generation does not reflect the condition, they
•
Judging by this particular pattern sex doesn’t are unaffected
attribute to inheriting the mutation (even though • This means that these children here are
most females are affected, there is an affected heterozygous, they are carriers of the foundation
male) you would be able to conclude that this is an
autosomal dominant disorder
EXAMPLE
• Huntington’s disease
• Neurofibromatosis
• Achondroplasia
• Familial hypercholesterolemia

• This man (red arrow) which is the offspring which SEX-LINKED INHERITANCE PATTERNS
is heterozygous for the condition, married a girl • X-linked Dominant and Recessive & Y-linked
(blue box) in which the parents are unaffected. dominant
• However, the girl has siblings that are affected. X-LINKED DOMINANT
This makes her parents heterozygous because
you cannot have affected offspring. Unless one is
homozygous and the other is heterozygous, then
there is no chance that any of offspring is affected.
• Since any of the offspring is affected, therefore,
the parents of the girl are heterozygous.
• Females are more frequently affected by X linked

dominant disorders
• If father is affected, all daughters are affected while
sons are not affected
• The man (red arrow) and the woman (blue box) o Fathers cannot pass the condition to their sons
had children. o Fathers cannot pass on X chromosomes to their
• One of the children is affected by the condition sons, only Y.
(red box) • Can have male and females in same generation if
o We can say that the woman is heterozygous the mother is affected
for the condition as well o If the mother is homozygous then all of her
children, whether be it a boy or a girl, will be
affected
o If mother is heterozygous then it will be 50/50,
regardless if the child is a boy or a girl.
EXAMPLE
• Hypophosphatemic rickets (Vitamin D resistant
rickets)
• The image shows that one is affected but it skips

one generation and next generation carries the
traits of being affected.
• Another case, the first generation is unaffected.
However, the second and third generation is
affected.
• This is called AUTOSOMAL RECESSIVE
INHERITANCE PATTERN
• One of the parents should be affected by the trait, or

if not, are carriers of the trait (heterozygous)
• Typically skip a generation, affected offspring may
have unaffected parents.
• Both males and females are equally likely to be
affected. • Ornithine transcarbamylase deficiency
o Ornithine transcarbamylase is an enzyme
EXAMPLE necessary for the breakdown of ammonium in
• Tay-Sachs disease the blood
• Sickle Cell Anemia o If ammonium is not broken down from the
breakdown of proteins, there will be fatal
• Cystic Fibrosis
consequences
• Phenylketonuria

X-LINKED RECESSIVE EXAMPLE
• Males are more frequently affected. o Hypertrichosis of the wars
o Because males are X and Y however since this o “Hairy ears”
is X-linked it only needs males one copy. The X
chromosome which is basically from the mother,
if the mother is affected most probably that the
male offspring will be affected. Females need
two copies of this gene however since males
only have one copy of the X gene, males are
going to be affected as long as they carry the
gene in their X chromosome
• Can skip generations
• Affected sons typically have unaffected mothers
• Fathers also must be affected for daughters to be
affected; mother must be affected or a carrier for the
daughter to be affected o Webbed toes
o Ichthyosis hystrix (Porcupine man)

o Heavy keratin production in the root tips of the
hair
o “Spiky” hair in the body
• If the mother is heterozygous for this OTHER INHERITANCE PATTERN

condition and then it’s passed on, say if MITOCHONDRIAL
the mother is homozygous then both male o Does not conform to the autosomal and sex linked
and female offspring will be of course inheritance patterns
affected. o Can appear in every generation
• Never passed from father to son o This does not necessarily mean it will not skip a
• Only females can be carriers for the disorder generation
o Only passed on if the mother is affected
EXAMPLE o Both male and female is affected, however,
o Hemophilia A similar to x-linked, only mothers can pass this to
o Inability for the person to clot the children
o Duchenne muscular dystrophy • If mother is affected, all offspring will be affected
• If father is affected, the condition is not passed on
to his offspring
o Remember during fertilization, the sperm cell will
eject its mitochondria and will only incorporate
the mitochondria of the egg cell. So, the egg cell
from the female will have the mitochondria which
carries the condition, and will be passed to the
offspring.
Y-LINKED OR HOLANDRIC
o Only males can be affected
o If father is affected, all sons will be affected
o Does not skip a generation

EXAMPLE
• Leber’s hereditary optic neuropathy
• Kearns-Sayre syndrome
• Both affects vision.
MULTIFACTORIAL INHERITANCE
• Unlike other inheritance patterns that are single-
gene, multifactorial inheritance involves more than
one factor.
• Genes are the main factor, but what triggers them
are not genes. It includes:
o Nutrition
o Lifestyle
o Medicine
o Underlying illness
• Tend to run in families; therefore, inheritance pattern
is not conclusive for an individual
• Tendency that the individual will have the disorder is
known as risk
EXAMPLE
• Birth defects
o Cleft palate
• Cancers
o When a mother or father has cancer then there
is high chance that the children will inherit it, but
oncogenes are not necessarily triggered. What
triggers oncogenes are different types of factors
epigenetics, the environment, stress, etc.
• Hypertension
• Diabetes
• Arthritis
• Asthma
• Allergies


Cyto Midterms

Uploaded by

Document Information

Original Description:

Original Title

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

Cyto Midterms

Uploaded by

Copyright:

Available Formats

MIDTERMS

LAW OF INDEPENDENT ASSORTMENT

 Mendel analyzed the inheritance pattern of two

 Alternative method to the Punnett square and

 As an example, let us consider an intercross

 White and red varieties are the homozygous for

Two highly inbred strains of mice, one with black

Predict the outcome of intercrossing the offspring.

● This problem is a typical example of a

WD WWDD WwDD WWDd WwDd

wd WwDd WwDd Wwdd wwdd WD wd Wd wd

WD WWDD WwDD WWDd WwDd

wD WwDD wwDD WwDd wwDd WD wd Wd wd

Wd WWDd WwDd WWdd Wwdd WD WWDD WwDD WWDd WwDd

wd WwDd WwDd Wwdd wwdd wD WwDD wwDD WwDd wwDd

Wd WWDd WwDd WWdd Wwdd

If you have noticed, it is the same pattern Gregor

Coat color in mice is incompletely dominant. Yellow

DOMINANT VS. RECESSIVE GENES

 The "A" allele is dominant and so is the "B'

 For blood type A, the antigen is found on

 How do we form the A antigen?

 This shows you the precursor substance or

 In order for your antigens to form, it

 Let’s go back again to the RBC precursor

 Blood plasma is packed with proteins called

 It is important to carefully match the donor and

 An antigen is a protein (encoded from the right

 If a person has either two (+) genes for Rh or

BLOOD TYPES AND RH TYPE QUESTION

 Example: A woman heterozygous for blood

WEEK 9: PATTERNS OF INHERITANCE PART 1: PEDIGREE CONSTRUCTION AND PROBABILITIES

REVIEW ON MEDELIAN INHERITANCE PATTERN

• The Three Mendelian Laws

HOW TO CONSTRUCT A PEDIGREE CHART

THE AVENGERS SQUAD 1

WEEK 9: PATTERNS OF INHERITANCE PART 1: PEDIGREE CONSTRUCTION AND PROBABILITIES

• IDENTICAL TWINS (MONOZYGOTIC)

• MULTIPLE INDIVIDUALS (UNAFFECTED) • The earliest pedigrees were strictly genealogical.

THE AVENGERS SQUAD 2

WEEK 9: PATTERNS OF INHERITANCE PART 1: PEDIGREE CONSTRUCTION AND PROBABILITIES

• ORANGE (III) they are first degree cousins because

THE AVENGERS SQUAD 3

WEEK 9: PATTERNS OF INHERITANCE PART 1: PEDIGREE CONSTRUCTION AND PROBABILITIES

• They share one set of parents

PEDIGREE CHART CONT…

• The 2nd generation red circle marries a normal guy

THE AVENGERS SQUAD 4

WEEK 9: PATTERNS OF INHERITANCE PART 1: PEDIGREE CONSTRUCTION AND PROBABILITIES

• This (square) should be Aa so • Two questions:

• Given this set of

PEDIGREE CHART: CONDITIONAL PROBABILITY

• Given this, you have four conditions: 1 homozygous

THE AVENGERS SQUAD 5

WEEK 9: PATTERNS OF INHERITANCE PART 1: PEDIGREE CONSTRUCTION AND PROBABILITIES

• The chance that fetus is a carrier is 2 out of 4 or ½ if

• The total probability that the child

*this is for conditional probability

PEDIGREE CHARTS: DIFFICULTIES

THE AVENGERS SQUAD 6

PATTERNS OF INHERITANCE SYMBOLS IN PEDIGREE CHART

Identical Twins Identical (monozygotic) twins