Heredity, Gene Regulation, and Development I. Mendel's Contributions

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Heredity, Gene Regulation, and Development I. Mendel's Contributions II. Meiosis and the Chromosomal Theory III. Allelic, Genic, and Environmental Interactions IV. Sex Determination and Sex Linkage V. Linkage A. Overview. Independent Assortment. A. A. b. B. a. a. B. b. AB. ab. - PowerPoint PPT Presentation

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Heredity, Gene Regulation, and Development

I. Mendel's ContributionsII. Meiosis and the Chromosomal TheoryIII. Allelic, Genic, and Environmental InteractionsIV. Sex Determination and Sex LinkageV. Linkage

A. Overview

A aA a

b BB b

AB ab Ab aB

Independent Assortment

V. Linkage

A. Overview

A aA a

b BB b

AB ab Ab aB

Independent Assortment

A a

B b

Linkage

AB ab

V. Linkage

A. OverviewLinkage

A a

B bAB ab

A a

B bAB ab

In Prophase I of Meiosis – Crossing-over

A a

b B

Ab aB

X

AABB aabbAB

AB

ab

ab

V. Linkage

A.OverviewB.Complete Linkage

Test Cross

- if genes are immediate neighbors, they are almost never separated by crossing over and are ‘always’ inherited together. The pattern mimics that of a single gene.

X

AABB aabbAB

AB

ab

ab

AB abGametes

AB

abF1

V. Linkage

A.OverviewB.Complete Linkage

- if genes are immediate neighbors, they are almost never separated by crossing over and are ‘always’ inherited together. The pattern mimics that of a single gene.

X

AB

ab

Gametes

AB

ab ab

ab

F1 x F1

ab

V. Linkage

A.OverviewB.Complete Linkage

- if genes are immediate neighbors, they are almost never separated by crossing over and are ‘always’ inherited together. The pattern mimics that of a single gene.

F1 x F1 X

AB

ab

Gametes

AB

ab ab

ab

ab

AaBb

aabb

1:1 ratio A:a

1:1 ratio B:b

1:1 ratio AB:abNOT 1:1:1:1

V. Linkage

A.OverviewB.Complete Linkage

Phenotypes

AB

ab

aB ?

Ab ?

C. Incomplete Linkage

B

a b

A b

a b

a

C. Incomplete Linkage

- So, since crossing-over is rare (in a particular region), most of the time it WON’T occur and the homologous chromosomes will be passed to gametes with these genes in their original combination…these gametes are the ‘parental types’ and they should be the most common types of gametes produced.

B

a b

b

a b

a

A B

a b

A

C. Incomplete Linkage

- But during Prophase I, homologous chromosomes can exchange pieces of DNA.

- This “Crossing over” creates new combinations of genes…

These are the ‘recombinant types’

B

a b

b

a b

a

A B

a b

A

a B

A b

C. Incomplete Linkage

As the other parent only contributed recessive alleles, the phenotype of the offspring is determined by the gamete received from the heterozygote…

B

a b

b

a b

a

A B

a b

A

a B

A b

gamete genotype phenotype

ab aabb ab

ab AaBb AB

ab aaBb aB

ab Aabb Ab

LOTS of these

FEW of these

V. Linkage

A.OverviewB.Complete LinkageC.Incomplete Linkage 

1. Determining if the genes are linked, or are assorting independently:

Offspring Number

AB 43

Ab 12

aB 8

ab 37

AaBb x aabbV. Linkage

A.OverviewB.Complete LinkageC.Incomplete Linkage 

1. Determining if the genes are linked, or are assorting independently:

- test cross

Offspring Number

AB 43

Ab 12

aB 8

ab 37

AaBb x aabb

The frequency of ‘AB’ should = f(A) x f(B) x N = 55/100 x 51/100 x 100 = 28The frequency of ‘Ab’ should = f(A) x f(B) x N = 55/100 x 49/100 x 100 = 27The frequency of ‘aB’ should = f(a) x f(B) x N = 45/100 x 51/100 x 100 = 23The frequency of ‘ab’ should = f(a) x f(b) x N = 45/100 x 49/100 x 100 = 22

V. Linkage

A.OverviewB.Complete LinkageC.Incomplete Linkage 

1. Determining if the genes are linked, or are assorting independently:

- test cross - determine expectations under the

hypothesis of independent assortment

Offspring Number

AB 43

Ab 12

aB 8

ab 37

AaBb x aabb

B b Row Total

A 43 12

a 8 37

Col. Total

V. Linkage

A.OverviewB.Complete LinkageC.Incomplete Linkage 

1. Determining if the genes are linked, or are assorting independently:

- test cross - determine expectations under the

hypothesis of independent assortment

Easy with a 2 x 2 contingency table

Offspring Number

AB 43

Ab 12

aB 8

ab 37

AaBb x aabb

B b Row Total

A 43 12 55

a 8 37 45

Col. Total

51 49 100

V. Linkage

A.OverviewB.Complete LinkageC.Incomplete Linkage 

1. Determining if the genes are linked, or are assorting independently:

- test cross - determine expectations under the

hypothesis of independent assortment

Easy with a 2 x 2 contingency table

Compute Row, Columns, and Grand Totals

Offspring Number

AB 43

Ab 12

aB 8

ab 37

AaBb x aabb

B Exp. b Row Total

A 43 28 12 55

a 8 37 45

Col. Total

51 49 100

V. Linkage

A.OverviewB.Complete LinkageC.Incomplete Linkage 

1. Determining if the genes are linked, or are assorting independently:

- test cross - determine expectations under the

hypothesis of independent assortment

Easy with a 2 x 2 contingency table

Compute Row, Column, and Grand Totals

E = (RT x CT)/GT

B Exp. b Exp. Row Total

A 43 28 12 27 55

a 8 23 37 22 45

Col. Total

51 49 100

Offspring Number

AB 43

Ab 12

aB 8

ab 37

AaBb x aabbV. Linkage

A.OverviewB.Complete LinkageC.Incomplete Linkage 

1. Determining if the genes are linked, or are assorting independently:

- test cross - determine expectations under the

hypothesis of independent assortment

Easy with a 2 x 2 contingency table

Compute Row, Column, and Grand Totals

E = (RT x CT)/GT

Phenotype Obs Exp (o-e) (o-e)2/e

AB 43 28 15 8.04

Ab 12 27 -15 8.33

aB 8 23 -15 9.78

ab 37 22 15 10.23

X2 = 36.38

B Exp. b Exp. Row Total

A 43 28 12 27 55

a 8 23 37 22 45

Col. Total

51 49 100

V. Linkage

A.OverviewB.Complete LinkageC.Incomplete Linkage 

1. Determining if the genes are linked, or are assorting independently:

- Chi-Square Test of Independence

Offspring Number

AB 43

Ab 12

aB 8

ab 37

AaBb x aabbV. Linkage

A.OverviewB.Complete LinkageC.Incomplete Linkage 

1. Determining if the genes are linked, or are assorting independently:

2. Detemining the arrangement of alleles in the F1 individual; which alleles are paired on each homolog?

Offspring Number

AB 43

Ab 12

aB 8

ab 37

AaBb x aabb

A B

a b

V. Linkage

A.OverviewB.Complete LinkageC.Incomplete Linkage 

1. Determining if the genes are linked, or are assorting independently:

2. Detemining the arrangement of alleles in the F1 individual; which alleles are paired on each homolog?

- most abundant types are ‘parental types’

A B

a b

a B

A b

V. Linkage

A.OverviewB.Complete LinkageC.Incomplete Linkage 

1. Determining if the genes are linked, or are assorting independently:

2. Detemining the arrangement of alleles in the F1 individual; which alleles are paired on each homolog?

- most abundant types are ‘parental types’ - least abundant are products of crossing-over: ‘recombinant types’

Offspring Number

AB 43

Ab 12

aB 8

ab 37

AaBb x aabb

A B

a b

20 map units

V. Linkage

A.OverviewB.Complete LinkageC.Incomplete Linkage 

1. Determining if the genes are linked, or are assorting independently:

2. Detemining the arrangement of alleles in the F1 individual; which alleles are paired on each homolog?

3. Determining the distance between loci:

Add the recombinant types and divide by total offspring; this is the percentage of recombinant types. Multiply by 100 (to clear the decimal) and this is the index of distance, in ‘map units’ or centiMorgans.

20/100 = 0.20 x100 = 20.0 centiMorgans

V. Linkage

A.OverviewB.Complete LinkageC.Incomplete Linkage D.Summary

- by studying the combined patterns of heredity among linked genes, linkage maps can be created that show the relative positions of genes on chromosomes.

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