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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 A a A a b B B b AB ab Ab aB Independent Assortment

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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Page 1: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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

Page 2: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

V. Linkage

A. Overview

A aA a

b BB b

AB ab Ab aB

Independent Assortment

A a

B b

Linkage

AB ab

Page 3: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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

Page 4: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

X

AABB aabbAB

AB

ab

ab

V. Linkage

A.OverviewB.Complete Linkage

Test Cross

Page 5: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

- 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

Page 6: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

- 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

Page 7: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

- 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 ?

Page 8: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

C. Incomplete Linkage

B

a b

A b

a b

a

Page 9: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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

Page 10: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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

Page 11: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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

Page 12: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

V. Linkage

A.OverviewB.Complete LinkageC.Incomplete Linkage 

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

Page 13: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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

Page 14: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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

Page 15: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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

Page 16: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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

Page 17: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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

Page 18: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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

Page 19: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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

Page 20: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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?

Page 21: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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’

Page 22: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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’

Page 23: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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

Page 24: Heredity, Gene Regulation, and Development  I. Mendel's Contributions

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.

Page 25: Heredity, Gene Regulation, and Development  I. Mendel's Contributions