1.

Segregation and Assortment

BSC 315-001

1a. Mendels Law of Segregation

Trait: A particular characteristic of the organisms, eg., seed color,

flower color, height, etc.
Phenotype: Appearance or form of physiological state with a trait.
Genotype: description of the allele composition of an individual
o Every organisms has two* copies of every gene
Exceptions will be discussed later
o If for gene A there are two alleles, A and a, then any individual
has one of the three possible genotypes: AA, Aa, or aa.
o Homozygous genotype: two of the same allele. AA and aa.
o Heterozygous genotype: two different alleles. Aa.

Genotype/Phenotype relationships
Depends on the trait and the pair of alleles being considered
Strict dominance/recessiveness
o Heterozygous genotype has the same phenotype as one of the
homozygous genotypes
o Example: Aa has the same phenotype as AA
The A allele is dominant; the a allele is recessive
o Example: Seed color (trait) in peas
Two phenotypes:
Yellow: Genotypes YY and Yy
Green: Genotype yy
Yellow is the dominant phenotype. The Y allele is dominant
to the y allele.
Mendel
Recognized the relationship between genotype and phenotype ~150
years ago
Austrian monk; published studies on pea genetics in 1866
Started with pure-breeding strains of peas
o Pure-breeding: strain that produces the same phenotype
generation after generation
Mendels observations:
o Cross between two pure-breeding strains all of the progeny
have one of the two phenotypes.
o When progeny are self-crossed both phenotypes are present in
the second generation progeny in a 3:1 ratio, ie., of one and
of the other
Self-cross: self-mating, or cross to a genetically identical
individual.
o Only one of the phenotypes is observed in the first generation

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1. Segregation and Assortment

BSC 315-001

o Both phenotypes are observed in the second generation, in a 3:1

ratio
Mendels theory
o 1. Genotype/phenotype
Peas have 2 copies of each gene (diploid)
Genes come in variants (alleles)
The Yy and YY genotypes have the same phenotype
(complete dominance), but are different from the yy
phenotype.
o 2. Segregation
Gametes (egg/sperm) have only one copy of each gene
(haploid)
Fertilization occurs at random and restores the diploid gene
number
Mendels crosses
o Generations in a cross are named:
P (=parental)
F1 (=first filial)
F2 (=second filial)
x indicates a mating
o Mendels
P: Yellow seeds x green seeds (YY x yy)
F1: all yellow seeds (all Yy)
F2: yellow; green (YY and Yy and yy)
o Nomenclature for crosses:
Hybrid: offspring of two true-breeding strains
Monohybrid cross: one trait analyzed
Dihybrid: two traits
Trihybrid: three traits,etc.
Mendels Theory of Genetics (Law of Segregation)
o Law of segregation: the two alleles of a gene segregate from
each other during gamete formation, and unite at random at
fertilization, restoring the diploid chromosome number.
Mendels Test of his Theory
o Prediction: the yellow F2s contain both YY and Yy, in a 1:2 ratio
o Test: determine the genotype of yellow F2s
Test cross: a cross to determine the genotype of an
unknown individual
Procedure: cross unknown with homozygous recessive
(tester strain)

1b. Independent Assortment

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1. Segregation and Assortment

BSC 315-001

Law of Independent Assortment: Gametes carrying Y contain either

R or r with equal probability. Ditto for gametes with allele y.
Dihybrid cross: two traits
o P: Yellow round x green
wrinkled (YY RR x yy rr)
o F1: yellow round x self
(Yy Rr x Yy Rr)
o F2: 9 different
genotypes, 4 different
phenotypes (9:3:3:1
ratio)
9/16 Round;
Yellow (R-Y-)
3/16 Round;
Green (R-yy)
3/16 Wrinkled;
Yellow (rrY-)
1/16 Wrinkled; Green (rryy)
Product rule: the fraction of cases in which two events both occur is the
product of the fractions of each individual event.
o Example: In a self cross of F1 round yellow dihybrids, what
fraction of F2s have round yellow phenotype?
Fraction of F2s with round yellow phenotypes=(fraction
round)(fraction yellow)=(3/4)(3/4)=9/16
Fraction of F2s with genotype RRyy
(fraction RR)(fraction yy)= fraction RR yy=(1/4)
(1/4)=1/16
Fraction of F2s with genotype RrYy
(fraction Rr)(fraction Yy)= fraction
RrYy=(1/2)(1/2)=1/4
Gamete types
o For N heterozygous genes, the number of
genetically different gametes is 2N
o How many genetically different gametes are produced
by an individual AaBbCcDd?
N=4, so 24=16
o How many genetically different gametes are
produced by an individual AaBBCcDdee?
N=3, so 23=8
o A trihybrid F1 individual (AaBbCc) is self-crossed. What
fraction of the F2 individuals
(A-)(B-)(C-)=(3/4)(3/4)(3/4)=27/64 A-B-Co What fraction will have the genotype AABbcc
(AA)(Bb)(cc)=(1/4)(1/2)(1/4)=1/32

Melanie Painter

1. Segregation and Assortment

BSC 315-001

Branch diagram method

aaBBCcDdee x AaBbccDdee
o What fraction of the progeny have the same phenotype as the
first parent?
(1/2)(1/2)(1/2)(1/2)(1)
o What fraction have the same genotype as the first parent?

Melanie Painter