GENE SEGREGATION

AND INTERACTION

Lecture 3
GENE
• inherited factor on the chromosome responsible for a certain trait
• e.g. gene for color of flower (purple vs white)
gene for shape of seeds (round vs wrinkled)

LOCUS
• location of a gene on a chromosome

ALLELE
• alternative forms of a gene
• e.g. allele for yellow color
allele for white color
GENOTYPE
• the genetic composition of a cell or organism

PHENOTYPE
• physical, physiological, biochemical and
behavioral trait of an organism
• determined by the genotype and its interaction
with the environment
DOMINANT
•gene exerting full effect despite the
presence of another allele of the same
gene
RECESSIVE
•gene not expressed in the presence of
another allele
HOMOZYGOUS
•2 copies of the same allele of a gene
•e.g. YY, yy

HETEROZYGOUS
•2 different alleles of the same gene
•e.g. Yy
HYBRIDIZATION
• cross two individuals with contrasting traits
• e.g. purple x white (flower color)
yellow x green (pod color)

BACKCROSSING
• the cross of a heterozygote with one of its parents
F1 or first filial generation
• first generation produced after mating between
parents that are homozygous for different
alleles
F2 or second filial generation
• the generation produced by self fertilization or
sib-mating of F1 individuals
Gregor Mendel (1822-1884)
• used self pollinated plants (garden peas)
• used pureline or true breeding parents
(homozygous) with contrasting traits
• emasculated the female parent to prevent
selfing
▫ pollen is brushed on the stigma of the female flower
▫ cutting of the anther
Monohybrid Cross
• a cross between 2
individuals involving
1 character

genotypic ratio?
phenotypes?
phenotypic ratio?
Law of Segregation
•unit of hereditary characters (gene) occur
in pairs, and that in the formation of
gametes during meiosis, these separate
from each other so that only one member
of the pair goes into a particular gamete
Predict the Genotypic Ratio of the following
crosses
1.AA x Aa
2.Aa x aa

Answers:
1. 2AA:2Aa or 1AA:1Aa
2. 2Aa:2aa or 1Aa:1aa
Dihybrid Cross
• a cross between 2 individuals involving 2
characters
• e.g. seed shape – round vs wrinkled
seed color – yellow vs green
• true breeding parentals
Parent 1 – round, yellow (RRYY)
Parent 2 – wrinkled, green (rr,yy)
Dihybrid Cross
Parent 1 – round, yellow (RRYY)
Parent 2 – wrinkled, green (rr,yy)
Mendel’s result
yellow, round 315
yellow, wrinkled 101
green, round 108
green, wrinkled 35
Law of Independent Assortment
•the pair of factors for one trait
segregate independently of the factors
for other traits
•all possible combinations of factors
can occur in the gametes
• Y-yellow seed
• y-green seed
• R-round seed
• r-wrinkled seed
•Genotypic Ratio?
•Phenotypic Ratio?
Exercise. Identify the Genotypic and
Phenotypic Ratio of the following cross
1.Rryy x RrYY
2. FFhh x ffHH
R – round seed F – purple flower
r – wrinkled seed f – white flower
Y – yellow seed H – tall plant
y – green seed h – dwarf plant
Probabilities
• if two pairs of contrasting traits are inherited
independently
• to predict the frequencies of F2 phenotypes
• for simultaneous occurrence of two independent
events, the combined probability of the two
outcomes is equal to the product of their individual
probabilities
 RrYy x RrYy
TEGI (Take Each Genotype Independently)
Rr x Rr – 1RR:2Rr:1rr
¾ round : ¼ wrinkled
Yy x Yy – 1YY:2Yy:1yy
¾ yellow : ¼ green
¾ yellow (3/4)(3/4) = 9/16
¾ round
¼ green (3/4)(1/4) = 3/16
¾ yellow (1/4)(3/4) = 3/16
¼ wrinkled
¼ green (1/4)(1/4) = 1/16
Determine the probability that a plant with
genotype AaBb will be produced by the given
cross.
AaBb x Aabb
Aa x Aa – ¼ AA: 2/4 Aa: ¼ aa
Bb x bb – ½ Bb : ½ bb
P= (1/2 Aa)(1/2 Bb)
P=1/4 AaBb
If two events are not independent,
• the likelihood of an outcome is referred to as conditional probability
• What is the probability that one outcome will occur given the specific
condition upon which this outcome is independent?
FORMULA:
𝑛!
P= 𝑝𝑤 𝑞 𝑥
𝑤!𝑥!
Where:
n = total number of progeny
w = number of progeny with genotype or phenotype p
x = number of progeny with genotype or phenotype q
p = probability of genotype/phenotype w
q = probability of genotype/phenotype x
In a sibship of 8 children, what is the probability of
having 5 boys and 3 girls?
𝑛! 𝑤 𝑥
P= 𝑝 𝑞
𝑤! 𝑥!
8! 15 13
P= ( )
5! 3! 2 2

40320 1 1
P= ( )( ) 7 out of 32 families will have a
720 32 8
combination of 5 boys and 3
56 7 girls.
P= 𝑜𝑟
256 32
TRY THIS!  Cystic fibrosis is due to homozygous
recessive genes. Two parents heterozygous for the
gene have 5 children, what is the probability that 3
will be normal?

Cc x Cc = 1CC : 2Cc : 1cc

¾ normal:1/4 with cystic fibrosis
 𝑛! 𝑤 𝑥
P= 𝑝 𝑞
𝑤! 𝑥!

5! 33 12
P= ( )
3! 2! 4 4

27 1
P = 10
64 16

27 270
P = 10 =
1024 1024
Discoveries before Chromosomal Theories of
Inheritance
• 1865 – Mendel’s Principles
• 1871 – Friedrich Miescher – isolated nuclein (DNA) from nucleus
• 1875 – O. Hertwig – nucleus required in cell division and fertilization
• 1882-1885 – E. Strassburger & Walter Flemming – chromosomes are
in the nucleus
• 1900 – de Vries, Correns, Tschermak – confirmed Mendel’s principles
in plants
• 1902 – Bateson, Saunders and Cuenot – confirmed Mendel’s
principles in animals
• 1903 – Walter Sutton and Theodor Boveri – Chromosome Theory of
Inheritance – resemblance between Mendelian factors and
chromosomes
 Correlations between Chromosomes and
Mendelian Factors
Mendelian factors also exist in
Chromosomes exist in pair pair – maternal and paternal
origin
Homologous chromosomes Mendelian factors separate at
separate at Anaphase I Anaphase I
Fertilization restores diploid
Alleles of a gene are in pair
chromosome number
Types of Dominance Relationship

1.Complete Dominance
2.Incomplete Dominance
3.Overdominance
4.Co-dominance
Complete Dominance

•GR: 1:2:1
•PR: 3:1
•AA and Aa have the same phenotype
•the presence of a dominant allele is
enough to express the dominant trait
Incomplete Dominance
•F1 Phenotype is intermediate
•F2 GR: 1:2:1
•F2 PR: 1:2:1
▫ Red (RR) x white (rr)
F1: all pink (Rr)
F2 GR: 1RR:2Rr:1rr
F2:PR: 1red:2pink:1white
Overdominance
•Aa is superior compared to AA and aa
•occurs when a heterozygote has a more
extreme phenotype than that of either of
its parents
•e.g. Sickle Cell Anemia
Codominance
•the products of the two alleles in the
heterozygote are present
•occurs when the phenotypes of both
parents are simultaneously expressed in
the same offspring
Multiple Alleles
•more than two
alleles at a single
locus
•e.g. ABO blood
group
 Phenotype Genotype
O OO
A AA or AO
B BB or BO
AB AB

Q#1. Could a child with blood type O be produced from

parents with blood types A and B?

Q#2. A mother and her child have blood type O. Which

blood group can the father NOT belong to?
Lethal Genes
•genes that can cause death
▫recessive lethal
▫dominant lethal
▫conditional lethal (environmental influence)
▫semi-lethal/sublethal
Lethal Genes
•Completely lethal genes usually cause
death
▫of the zygote
▫later in the embryonic development
▫even after birth or hatching
Lethal Genes
•dominant lethal
▫lethal effects occur when a dominant
allele is present (either homozygous or
heterozygous)
▫e.g. Huntington’s disease
dominant lethal – Huntington’s
Disease
• progressive degeneration of
the CNS
• involuntary movements
• psychosis in advanced disease
• onset of symptoms at early
30’s
• death at 40-50%
Lethal Genes
•recessive lethal
▫lethal when homozygous recessive
(Xeroderna pigmentosum)
▫could result to a recognizable phenotype
when heterozygous (infantile amaurotic
idiocy in humans)
recessive lethal
• Manx allele
• Tay-sach’s disease
• Cystic fibrosis
• Xeroderma pimentosum
recessive lethal

•Manx allele
▫abnormal spinal development
▫extreme developmental abnormality
▫death of embryo
recessive lethal - Manx cat (tailless)
recessive lethal
•Tay-sach’s disease
▫ normal at birth
▫ deterioration of CNS before 1y/o
loss of neuromuscular control
blindness
death at 3-4 y/o
recessive lethal – Tay – Sach’s disease
recessive lethal – Cystic
fibrosis
recessive lethal – Xeroderma pigmentosum
• lacks DNA repair enzyme
• photosensitive
• if exposed to light, may result to
• intense pigmentation
• freckling
• warty growths which may become malignant
• stunted growth
• epilepsy
Lethal Genes
•conditional lethal
▫may be influenced by environment
▫organism may survive under permissive
conditions
conditional lethal

• some developing
Drosophila larvae are
killed at 30ºC
• larvae will survive if
grown at 22ºC
conditional lethal - Favism
sensitivity to Fava beans – expressed
as hemolytic anemia
Modifier Genes
• gene changes phenotypic effect of other genes
in a quantitative fashion
• there will be dilution or enhancement
Gene Interaction
• non-allelic interaction of two or more genes
which results in a modified phenotypic ratio
1. Novel Phenotypes
2. Recessive Epistasis
3. Dominant Epistasis
4. Complementary Genes
5. Duplicate Genes
Epistasis
•interaction of two or more genes
•determined by observing certain
phenotypic ratios in the progeny of
heterozygous parents
1. Novel Phenotypes
• complete dominance in both gene pairs
• new phenotypes result from the interaction
between dominants and both homozygous
recessives
• e.g. comb shape in poultry
1. Novel Phenotypes
• Gene Assignments
R_ - rose is dominant to non-rose (rr)
P_ - pea is dominant to non-pea (pp)
a. P1 & P 2 RR (rose) x rr (single)
F1 3 R_(rose) : 1 rr (single)
b. P1 & P 2 PP (pea) x pp (non pea)
F1 3 P_(pea) : 1 pp (non pea)
c. P1 & P2 RRpp (rose) x rrPP (pea)
F1 RrPp (walnut)
F2 9 R_P_ (walnut)
3 P_pp (rose)
3 rrP_ (pea)
1 rrpp (single)
2. Recessive Epistasis
• complete dominance in both gene
pairs, but one gene, when
homozygous recessive hides or
masks the effect of the other.
• e.g. mouse coat color
2. Recessive Epistasis
• Gene Assignments
A_ - agouti is dominant to black (aa)
C_ - color expression is dominant to color
inhibition (cc)
P1 & P 2 CCaa (black) x ccAA (Albino)
F1 CcAa (Agouti)
F2 9 C_A_ (agouti) 9
3 C_aa (black) 3
3 ccA_ (albino)
1 ccaa (albino) 4
3a. Dominant Epistasis
• complete dominance at both
gene pairs, but one gene,
when dominant hides or
masks the effect of the other.
• e.g. fruit color in summer
squash
3a. Dominant Epistasis
• Gene Assignments
W_ - white is dominant to color (ww)
Y_ - yellow is dominant to green expression
is dominant to color (yy)
P1 & P2 WWyy (white) x wwYY (yellow)
F1 WwYy (white)
F2 9 W_Y_ (white) 12
3 W_yy (white)
3 wwY_ (yellow) 3
1 wwyy (green) 1
3b. Dominant Epistasis
• complete dominance at both gene
pairs, but one gene, when dominant
is epistatic to the second
• the second gene, when homozygous
recessive, is epistatic to the first
• e.g. feather color in poultry
3b. Dominant Epistasis
• Gene Assignments
I_ - color inhibition is dominant to color
expression (ii)
C_ - color is dominant to non-color (cc)
P1 & P2 IICC (white leghorn) x iicc(white wyandotte)
F1 IiCc (white)
F2 9 I_C_ (white)
3 I_cc (white) 13
1 iicc (white)
3 iiC_ (colored) 3
4. Complementary Gene Action
• either gene when homozygous recessive is
epistatic to the other gene
• e.g. flower color in pea
4. Complementary Gene Action
• Gene Assignments
P_ - purple is dominant to white (pp)
C_ - color is dominant to non-color (cc)
P1 & P2 PPCC (purple) x ppcc(white)
F1 PpCc (purple)
F2 9 P_C_ (purple) 9
3 P_cc (white)
3 ppC_ (white) 7
1 ppcc (white)
 Gene P Gene C

Enzyme P Enzyme C

Precursor White Purple

5. Duplicate Genes
• there is complete dominance in both gene pairs but
either gene, when dominant, is epistatic to the
other
• e.g. seed capsule of Shepherd’s purse (Bursa)
5. Duplicate Genes
• Gene Assignments
A_ - triangular is dominant to ovoid(aa)
B_ - triangular is dominant to ovoid(bb)
P1 & P2 AABB (triangular shape) x aabb(ovoid)
F1 AaBb (triangular)
F2 9 A_B_ (triangular)
3 A_bb (triangular)
3 aaB_ (triangular)
1 aabb (ovoid)