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Earlobe Variation
Whether a person has attached or
detached earlobes depends on a single gene Attached earlobes: two copies of the recessive allele for this gene Detached earlobes: either one or two copies of the dominant allele
Gregor Mendel
in plant breeding and mathematics Using pea plants, found indirect but observable evidence of how parents transmit genes to offspring
Strong background
Comments: Gene
Mendel never used the term, gene, gene,
although he clearly made a distinction between, genotypes and phenotypes. The term, gene, was coined by Wilhelm Johannsen (1909) based on the term, Pangenisis which Hugo de Vries (1889) used to describe Mendels concept of inherited units that determine phenotypes.
Genes
Units of information about specific traits Passed from parents to offspring Each has a specific location (locus) on a
chromosome
Alleles
Different molecular forms of a gene Arise by mutation Dominant allele masks a recessive
allele that is paired with it
Allele Combinations
Homozygous
having two identical alleles at a locus AA or aa
Heterozygous
having two different alleles at a locus Aa
Genetic Terms
A pair of homologous chromosomes
A pair of alleles
Parental generation P mates to produce First-generation offspring F1 mate to produce Second-generation offspring F2
Monohybrid Crosses
Experimental intercross between two F1 heterozygotes AA X aa Aa X Aa Aa (F1 monohybrids) ?
5,474 round
6,022 yellow
299 wrinkled
152 yellow
705 purple
224 white
207 at tip
787 tall
277 dwarf
Probability
The chance that each outcome of a given event will occur is proportional to the number of ways that event can be reached
F1 PHENOTYPES
aa
True-breeding homozygous dominant a parent plant
Aa a Aa Aa Aa
Aa
A AA A
Aa Aa
Aa
F2 PHENOTYPES
Aa AA A A AA a Aa aa Aa aa Aa
Aa
Monohybrid Cross #1
Long hair is dominant to short hair in
guinea pigs. Show the results of a cross between a homozygous short haired male and a pure long haired female.
Monohybrid Cross #1
What do we know? Both parents are homologous. Short haired male hh Long haired female HH (H gene is
dominant) hh x HH Draw the Punnett Square
#1 Punnett Square
hh x HH
H H
Meiosis 2n -> n Ova
Hh
Hh zygotes
Hh
Hh
sperm All of the F1s are hybrids, or heterogenous and they are long haired.
Monohybrid #2
What is the probability that a cross
between two guinea pigs both heterogeneous for long would produce a short haired guinea pig?
Monohybrid #2
Hh x Hh Draw the Punnett square
H H h h
Monohybrid #3
In Holstein cattle the spotting of the coat is
due to a recessive allele while the solid colored coat is controlled by a dominant allele. What types of offspring might be produced by a cross between two spotted animals?
Monohybrid #3
Cross: spotted cow x spotted cow Cross: ss x ss
(where S = solid and s = spotted)
Monohybrid #4
In lemurs brown eyes are dominant over
blue eyes. If a heterozygous brown eyed female mates with a blue eyed male, what would be the expected genotypic and phenotypic ratios of their offspring?
Monohybrid #4
Cross: Brown eyed heterozygous female
and a blue eyed male (homozygous) B = brown and b = blue
Bb x bb = 2 Bb and 2 bb Genotypic ratio Bb:bb 1:1 Phenotypic ratio Brown: blue 1:1
Test Cross
Individual that shows dominant phenotype
is crossed with individual with recessive phenotype
Dihybrid Cross
Experimental cross between individuals that are homozygous for different versions of two traits (Note: Youll not have any dihybrid problems to solve on any test)
GAMETES:
AB
AB AaBb
ab
ab
F1 HYBRID OFFSPRING:
1/4 Ab
1/4 aB
1/4 ab
Independent Assortment
Mendel concluded that the two units for
the first trait were to be assorted into gametes independently of the two units for the other trait
Independent Assortment
Metaphase I:
A B A a B b a b
OR
a b a b A b A b
A b
A a b B
a B
Metaphase II:
A B A B a B a B
Gametes:
B A A 1/4 AB
B a
b a 1/4 ab
b A
b A 1/4 Ab
b a
B a 1/4 aB
Tremendous Variation
Number of genotypes possible in offspring as a result of independent assortment and hybrid crossing is 2n (n is the number of gene loci at which the parents differ)
Dominance Relations
Complete dominance Incomplete dominance Codominance
Incomplete Dominance
Blood types:
AB
Pleiotropy
Alleles at a single locus may have effects
on two or more traits
Marfan Syndrome
Continuous Variation
A more or less continuous range of small
differences in a given trait among individuals
Human Variation
Some human traits occur as a few discrete
types
Attached or detached earlobes Many genetic disorders
Polygenic Inheritance
Suppose height in humans is controlled by
three sets of genes each on a different chromosome (independently assorted). Assume that each dominant allele contributes 1 unit of height and a recessive allele produces only unit of height. Two average heigth parents have the genotypes: AaBbCc x AaBbCc
Polygenic Inheritance
Each parent can produce 8 gametic gene
combinations: ABC, ABc, AbC, aBC, Abc, aBc, abC, abc ABc, AbC, aBC, Abc, aBc, abC, What size Punnett Square would we need?
ABC
AB c
Ab C
aB C
A bc
AABb Cc AABb cc AAbb Cc AaBb Cc AaBb cc AaBb cc AAbb cc Aabb cc
ABC
AAB BCC
AABB Cc AABb CC AaBB CC AaBb CC AaBB Cc AABb Cc
AaBB CC
AaBB Cc
AaBbC C
ABc
AbC
aaBB CC
aaBb CC
AaBb Cc
6 units
Polygenic inheritance produces a more or less continuous distribution of phenotypes. The more genes involved, the smoother the distribution. Parents AaBbCc 4.5 units each