MT 6315 CYTOGENETICS- UNIT 1: INTRODUCTION TO CYTOGENETICS

LESSON 2: MENDEL AND GENETICS

 genotype + environment
DEFINITION OF TERMS HOMOZYGOUS  having identical genes (one from
GENETICS each parent) for a particular
characteristic
 branch of biology that deals with heredity (inheritance
patterns) and variation of organisms  bb, BB, Blood type AA
HETEROZYGO  having two different genes (one
CHROMOSOMES US from each parent) for a particular
 carry the hereditary information (genes) characteristic
o Arrangement of nucleotides in DNA  Bb, Blood type AO
o DNA  RNA  Proteins (Central Dogma) SEX-LINKED  a trait in which a gene is carried on
TRAIT a sex chromosome
 Transcription – DNA is used as a template to
make mRNA, occurs in the nucleus
AUTOSOMAL  a trait controlled by genes on one
TRAIT of 22 pairs of autosomes
 Translation – ribosomes
DOMINANT  the allele of a gene that masks or
CHROMATIN – discrete unit of organized DNA suppresses the expression of an
 Substance within a chromosome consisting of DNA and alternate allele
protein (histones)  the trait appears in both
 Euchromatin – lightly packed, less condensed homozygous (BB) and
 Heterochromatin – tightly packed, condensed heterozygous condition (Bb)
RECESSIVE  an allele that is masked by a
HOMOLOGOUS CHROMOSOMES: contain DNA that codes dominant allele
for the same genes
 does not appear in the heterozygous
 same genes in the same location but different versions condition, only homozygous (bb)
of those genes MONOHYBRID  a genetic cross involving a single
o same location – colored strips
CROSS pair of genes (one trait); parents
o different versions – different shades of each color
differ by a single trait
 pair having the same length, same centromere position,
DIHYBRID  a genetic cross between two
and same staining pattern
CROSS different genes that differ in two
 not exact replicas
observed traits
o one set of chromosome is of maternal origin, and one
set is from paternal origin
GREGOR MENDEL
SISTER CHROMATIDS: exact replicas
 Two identical copies of the same chromosome  the father of Genetics
 attached to each other by centromere  Austrian monk who began genetics in 1886 when he
discovered the hereditary “factors”
o Known recently as genes
o Passed from parents to offspring
 Observed that not all characteristics can be observed in
each individual

BLENDING THEORY OF INHERITANCE

 Before Mendel’s postulates was created
 They called inheritance a process of “blending” where in
parental characteristics are blended and carried by the
offspring
GENE  a unit of heredity (unit of  Tall + Short = Medium; blue + yellow = green
inheritance)
 a section of DNA sequence
encoding a single protein
 pairs of hereditary factors
GENOME  entire set of genes (sum of all MENDEL’S EXPERIMENT
genetic information) in an organism
 Versuche uber Pflanzen-Hybriden
ALLELES  two genes that occupy the same
o Experiments in Plant Hybridization
position on homologous
o Mendel’s 1866 publication
chromosomes
 Discovered hereditary factors through the study of garden
 cover the same trait (like ‘flavors’
peas (Pisum sativum)
of a trait)
LOCUS  fixed location on a strand of DNA  Self-pollinated the garden peas until pure-breds or true-
where gene or one of its alleles is breds are obtained
located  Studied seven contrasting characteristics (traits)
GENOTYPE  genetic makeup of an organism
PHENOTYPE  physical appearance of an organism CONTRASTING CHARACTERISTICS
HEIGHT o so that each sex cell (egg/sperm) receives only
one kind of gene
1. Pollinated the pure-bred tall plants (P1) with the pure-bred  Offsprings would inherit each genetic factor from each
short plants (P2) parent
 Result: 100% tall offsprings for F1 (first filial o Both parents are contributing for the paired
generation) genes for each characteristics
2. Self-pollinated the F1 hybrid tall  Occurs during meiosis
 Result: 75% tall & 25% short plants for F2 o There is a correlation between the movement of
(second filial generation) chromosomes in meiosis and the segregation of
alleles

3. LAW OF INDEPENDENT ASSORTMENT

 States that each hereditary factor follows the rules on
independent assortment separately from each other
o Inheritance of one trait is not dependent on
the inheritance of another
 One pair of allele for an inherited trait is inherited
independently from other alleles
 Genes on different chromosomes will be inherited
independently of each other
 Established because of Mendel’s mathematical
background

FLOWERING LOCATION

1. Crossed the pure-bred axial flowering plant (P1) & pure-bred

terminal flowering plant (P2)
 Result: 100% axial garden peas (F1)

3. Self-pollinated the F1 hybrid axial garden peas

 Result: 75% axial & 25% terminal (F2)
PARTICULATE THEORY OF INHERITANCE
 Supported Mendel’s theory
SUMMARY OF GARDEN PEA TRAITS
 Also known as the Gene Idea
TRAIT DOMINANT RECESSIVE  Inheritance involves the passing of discrete units of
Flower color Purple White inheritance, or genes, from parents to offspring
Plant height Tall Short  Traits were passed on intact
Seed color Yellow Green
Seed shape Round Wrinkled
Pod color Green Yellow
Pod shape Inflated (full) Constricted (flat)
Flower Position Axial Terminal
MENDEL’S LAWS
(PATTERNS OF INHERITANCE)

1. PRINCIPLE OF DOMINANCE
 one allele masked another
o dominant trait masks the recessive trait
 one allele was dominant over the other in the F1
generation
 applies to all diploid organisms, including humans

2. PRINCIPLE OF SEGREGATION
 Genes inherited from the parents separate during the
gamete formation
 T t
T TT Tt
CHROMOSOME THEORY OF INHERITANCE
 Proposed by Walter Sutton and proved by Thomas Morgan
t Tt tt
using fruit fly
 Genes are present w/in chromosomes inside the cell Phenotypes: 3 Tall, 1 short
 Genes & chromosomes are in pairs in diploid cells Phenotypic Ratio: 3:1

PUNNETT SQUARE NOTE: This demonstrates the F2 generation

 Used to determine the inheritance of trait from parents to EXAMPLE 2

offsprings
 Pea pod color:
o predicts the probability of outcome of
o Y = Yellow (dominant)
offspring
o y = green (recessive)
 useful tool to do genetic crosses
 looks like a windowpane
PARENTAL GENOTYPE: Yy x yy
 used to predict genotypes and phenotypes of the
offspring y y
Genotypes:
 best demonstrates law of segregation and independent Y Yy Yy  50% Yy
assortment 
y yy yy 50% yy
Yy – heterozygous yellow
HOW TO USE A PUNNETT SQUARE yy – homozygous green

1. Determine the genotypes of parent organisms CASE STUDY 1: CYSTIC FIBROSIS (CF)
2. Write down you “cross” (mating)
3. Draw a Punnett square  a lethal genetic disease RECESSIVE TRAIT
4. “Split” the letters of the genotype for each parent and put affective Caucasians  individuals
them “outside” the Punnett square  Caused by mutant recessive with
 One parent across the top and that of the other parent gene carried by 1 in 20 people heterozygous
down the left side of European descent genotype will
 1 in 400 Caucasian couples will not manifest
be both carriers of CF, 1 in 4 any signs or
children will have it symptoms
 CF disease affects transport in (carrier)
tissues – mucus is accumulated  dominant trait
in lungs, causing infections will suppress it

If two parents carry the

recessive gene of Cystic Fibrosis (c), that is, they are heterozygous
5. Summarize the results (genotypes and phenotypes of the (Cc), what is the probability of that their offspring will acquire
offspring) cystic fibrosis? ANSWER – 25%
 Fill in the boxes by copying the row and column head CC = normal
letters across or down into the empty squares Cc = carrier, no symptoms
cc = has cystic fibrosis
MONOHYBRID CROSS
Parental Genotype: Cc x Cc
 best demonstrates law of independent segregation
 shows segregation of only one gene pair C c Genotypes:
 square is divided into four C CC Cc  25% CC
 50% Cc
EXAMPLE 1
c Cc cc  25% cc
A. TWO PEA PLANTS THAT DIFFER IN STEM SIZE Phenotypes:
Homozygous TALL (TT) x Homozygous SHORT (tt)  25% normal
 T = Tall (dominant)  50% carrier
 t = short (recessive)
 25% has cystic fibrosis

T T Genotypes:
t Tt Tt 100% Tt
t Tt Tt Phenotypes:
100% Tall plants

NOTE: This demonstrates the F1 generation

B. SELF-CROSSED F1 HYBRID TALL (Tt)

Genotypes:
 1 TT = Tall
 2 Tt = Tall
 1 tt = Short
  Mating that involve parents that differ in two genes
(two independent traits)

1. CROSS PURE-BRED GREEN, SMOOTH &

YELLOW, WRINKLED

SSGG x ssgg
Possible gametes: SG, sg

sg sg sg sg
SG SsGg SsGg SsGg SsGg
SG SsGg SsGg SsGg SsGg
SG SsGg SsGg SsGg SsGg
SG SsGg SsGg SsGg SsGg
GENOTYPES: 100% SsGg
PHENOTYPES: 100% Smooth & Green
CASE STUDY 2: HUNTINGTON DISEASE
2. SELF-CROSSED F1 HYBRID GREEN, SMOOTH POD
 A fatal genetic disorder that DOMINANT TRAIT: GARDEN PEA PLANT
causes the progressive no carrier SsGg X SsGg
breakdown of nerve cells in the Possible gametes: SG, Sg, sG, sg
brain What is the probability
 Known as the quintessential of the offspring SG Sg sG sg
family disease because every acquiring the Huntington SG SSGG SSGg SsGG SsGg
child of a parent with HD has a disease if one of the Sg SSGg SSgg SsGg Ssgg
50/50 chance of inheriting the parents is heterozygous
sG SsGG SsGg ssGG ssGg
faulty gene of the disease while the
other is normal?
sg SsGg Ssgg ssGg ssgg
 Allele for Huntington’s disease
is dominant ANSWER – 50%
GENOTYPES: 9
H =  SSGG (1), SSGg (2), SsGG (2), SsGg (4),
HD allele SSgg (1),Ssgg (2), ssGG (2), ssGG (1), ssGg
hh = normal (2), ssgg (1)
Hh= heterozygous HD
PHENOTYPES: 4
 9 smooth, green
Parental Genotype: Hh x hh
 3 smooth, yellow
 3 wrinkled, green
H h Genotypes:  1 wrinkled, yellow
h Hh hh  50% Hh
h Hh hh  50% hh
Phenotypes:
 50% has HD
TEST CROSS
 50% normal
 Used when you have an individual with an unknown
INHERITANCE PATTERN OF HD genotype
 Cross with a homozygous recessive individual (rr)

EXAMPLE 1: MONOHYBRID TESTCROSS

 A plant with purple flowers can either be PP or Pp.
Therefore, you cross the plant with pp (white flowers,
homozygous recessive)
P? x pp
 If you get all 100% PURPLE FLOWERS, then the
unknown parent was PP
P P
p Pp Pp
p Pp Pp
 If you get 50% WHITE, 50% PURPLE FLOWERS,
then the unknown parent was Pp
DIHYBRID CROSS
 Two traits/ gene pairs are being studied P p
p Pp pp
 Abundant body hair Little body hair
p Pp pp Blood Type B Blood Type O
Blood Type A Blood Type O
EXAMPLE 2: DIHYBRID TESTCROSS Baldness (in male) Not bald
Broad lips Thin lips
 If you had a tall, purple plant, how would you know the Dwarfism Normal growth
genotype High blood pressure Normal blood pressure
?? ?? x tt pp Large eyes Small eyes
Migraine Normal
Mongolian fold No fold in eyes
1. 100% TALL, PURPLE PLANT – TTPP Nearsightedness Normal vision
TP TP TP TP Rh factor (+) No factor (Rh -)
tp TtPp TtPp TtPp TtPp
tp TtPp TtPp TtPp TtPp INCOMPLETE DOMINANCE
tp TtPp TtPp TtPp TtPp
tp TtPp TtPp TtPp TtPp  type of relationship between alleles, with a heterozygote
phenotype intermediate between the two homozygote
2. 50% TALL,PURPLE & 50% TALL, WHITE - TTPp phenotypes
TP TP Tp Tp  absence of dominance
tp TtPp TtPp Ttpp Ttpp
tp TtPp TtPp Ttpp Ttpp EXAMPLE:
tp TtPp TtPp Ttpp Ttpp  When F1 generation (all pink flowers) is self-
tp TtPp TtPp Ttpp Ttpp pollinated, the F2 generation is 1:2:1 red, pink, white
R r
3. 50% TALL, PURPLE & 50% SMALL, PURPLE -
TtPP
R RR Rr
TP TP tP tP r Rr rr
tp TtPp TtPp ttPp ttPp
tp TtPp TtPp ttPp ttPp
tp TtPp TtPp ttPp ttPp
tp TtPp TtPp ttPp ttPp
SEX-LINKED TRAIT
4. 25% TALL, PURPLE, 25% TALL, WHITE, 25%
SMALL, PURPLE & 25% SMALL, WHITE - TtPp  Trait controlled by a gene associated to sex
TP Tp tP tp chromosome (sex-linked gene)
tp TtPp Ttpp ttPp ttpp  most commonly seen in males (46,XY).
tp TtPp Ttpp ttPp ttpp  In male, there is only 1 X chromosome
tp TtPp Ttpp ttPp ttpp o the presence of a recessive allele is not masked
tp TtPp Ttpp ttPp ttpp
by the dominant allele, thus, the gene is
expressed.
GENETICS IN HUMAN STUDIES
o A trait due to a gene in the Y chromosome will
(BEYOND MENDELIAN GENETICS)
only show in males and not in males
 Principle of Law of Dominance applies to all diploid  In female, the presence of 2 X chromosomes can
organisms, including humans suppress its expression
o If one of them has the gene for the trait, and the
 Humans have two sets of chromosomes (one from paternal,
another from maternal) other does not
 MENDELIAN TRAITS – single gene traits o requires the expression of both alleles on the X
chromosome
 MENDELIAN GENETICS – study of trait transmission
 Since the genotype of male and female are different, the
 Autosomal genes are present on 1 of the 22 autosomes,
probability prediction using a Punnett square is different
while Sex-linked genes are located on the X chromosome

NOTE: Y chromosome is shorter COLORBLINDNESS

AUTOSOMAL DOMINANT TRAITS
than X chromosome, thus contains  Gene is
 Requires the expression of only one allele of a only limited genes carried only
homologous pair
by X sex
o Phenotype is present when alleles are
chromosome
heterozygous or homozygous
 unable to see specific colors
o usually red and green
AUTOSOMAL RECESSIVE TRAITS
o sees red as a shade of brown
 Requires the expression of both alleles of a homologous pair
for the phenotype to be seen
o Phenotype present when alleles are homozygous

COMMON DOMINANT VS. RECESSIVE TRAITS

GENOTYPE PHENOTYPE
DOMINANT TRAITS RECESSIVE TRAITS FEMALE
Astigmatism Normal vision XCXC Normal vision
Hazel or green eyes Blue or gray eyes XCXc Normal vision but carrier
Chinky eyes Non-chinky eyes
 XcXc With colorblindness
MALE
XCY Normal vision
XcY With colorblindness

A. COLORBLIND MALE (XcY) and FEMALE WITH

NORMAL VISION (XCXC)

Xc Y
XC XCXc XCY
XC XCXc XCY

 FEMALE
o Genotype: 100% XCXc
o Phenotype: 100% carrier
 MALE
o Genotype: 100% XCY
o Phenotype: 100% normal
B. MALE WITH NORMAL VISION
COLORBLIND FEMALE (XcXc)
SEX-INFLUENCED TRAITS
 Autosomal traits that are influenced by sex
 A trait is dominant in one sex and recessive in the other
o If a male has one recessive allele, he will show
the trait
o It will take two recessive for the female to show
the same trait
 Occurs at a higher frequency in one sex over the other
(XCY) and (e.g. baldness)

Xc Xc
XC XCXc XCXc LINKED GENES
Y XYc
XY c  Involve 2 or more genes that are located near each other
in 1 chromosome
 Most likely inherited together due to their physical
 FEMALE closeness to each other
o Genotype: 100% XCXc  Do not follow the Law of independent assortment of
o Phenotype: 100% carrier Mendel
 MALE
o Genotype: 100% XcY CODOMINANT TRAITS
o Phenotype: 100% colorblind  Traits that are influenced by 2 dominant alleles (both are
simultaneously expressed in the heterozygote)
C. MALE WITH NORMAL VISION (XCY) and CARRIER BLOOD TYPE
FEMALE (XCXc)
 4 types of blood – Type A, B, AB, O
XC Y  Type A – IA (dominant), i (recessive)
XC XCXC XCY  Type B – IB (dominant), i (recessive)
 Type AB – in the presence of 2 dominant alleles IA
c c c
X XCX XY and IB

 FEMALE HEMOPHILIA
o Genotype: 50%  X-linked trait
c
XCX , 50% XCXC
o Phenotype: 50%
carrier, 50% normal
 MALE
o Genotype: 50% XCY,
50% XcY
o Phenotype: 50% normal,
50% colorblind Group A Group B Group Group O
AB
RBC TYPE A B AB O
Antibodies in Anti-B Anti-A None Anti-A &
the plasma Anti-B
Antigens A antigen B antigen A&B None
in RBC antigen
A. TYPE AB (IAIB) and Type O (ii) 2. If a woman is homozygous normal and her
IA IB husband is heterozygous for a genetically inherited
i IAi IBi recessive disease and they decide to become
parents, what is the probability that they will have
i IAi IBi a healthy child?
A A
A AA AA
GENOTYPES: 50% IAi, 50% IBi
PHENOTYPES: 50% Type A, 50% Type B
a Aa Aa
B. HOMOZYGOUS TYPE A (IAIA) and Type O (ii)
GENOTYPES: 50% AA, 50% Aa
IA IA
PHENOTYPES: 50% normal, 50% carrier
i IAi IAi 100% healthy child

i IAi IAi 3. If two parents are heterozygous for a genetically

inherited dominant trait, what is the probability
that they will have a child together who has this
GENOTYPES: 100% IAi, trait in his or her phenotype?
PHENOTYPES: 100% Type A
A a
C. HETEROZYGOUS TYPE A (IAi) and A AA Aa
HETEROZYGOUS TYPE B (IBi)
IA i a Aa aa
B
I IAIB IBi

ii IAi ii GENOTYPES: 25% AA, 50% Aa, 25% aa

PHENOTYPES: 75% with disease, 25% normal

GENOTYPES: 25% IAIB, 25% IBi, 25% IAi, 25% ii

PHENOTYPES: 4. What is the genotype of a plant if all the resulting
 25% Type AB offspring is heterozygous tall (dominant allele)
 25% Type A when mated with a short plant?
 25% Type B ?? x tt
 25% Type O Offspring: Tt
T T
D. HETEROZYGOUS TYPE A (IAi) and TYPE O (ii) t Tt Tt
IA i
i IAi ii t Tt Tt
i IAi ii
GENOTYPE of P1:
TT
GENOTYPES: 50% IAi, 50% ii
PHENOTYPES: 50% Type A, 50% Type O
5. What is the probability of a mother getting a child
that is blood type “O” if her blood type is “AB”?

POST-TEST
0%
1. If two people who are both carriers for a
genetically inherited fatal recessive disease decide
to become parents, what will be the odds that their
children will also be carriers?
A a
A AA Aa

a Aa aa

GENOTYPES: 50% Aa, 25% AA, 25% aa

PHENOTYPES: 50% carrier, 25% normal, 25%
with disease