chapter 12 – patterns of inheritance what is inheritance? why study inheritance? what is the...

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Chapter 12 – Patterns of Inheritance What is inheritance? Why study inheritance? What is the relationship between genes, alleles, phenotype and genotype? What is genetic linkage? How can inheritance be predictive? (why do we bother with Punnett squares?

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Chapter 12 – Patterns of Inheritance

What is inheritance?

Why study inheritance?

What is the relationship between genes, alleles, phenotype and genotype?

What is genetic linkage?

How can inheritance be predictive? (why do we bother with Punnett squares?

What is inheritance?

The genetic transmission of characteristics from parents to offspring

Geneticists study inheritance

Genes are inherited

Why study inheritance?

Many diseases involve inheritance

Why study inheritance?

Genetics benefits medical advances

What is the relationship between genes, alleles, genotype and phenotype?

What is the relationship between genes, alleles, genotype and phenotype?

Alleles are differences (variation) in a gene within a population of a species

Genes determine phenotype (physical characteristic) of a structure, molecule, etc.

Why are there alleles?

Point mutations in the wild type gene result in new alleles

Alleles, genotype and phenotype

1.Diploid organisms have 2 alleles for every gene

2.For each gene, the 2 alleles may be identical or they may be differenta)Homozygous – possessing 2 identical alleles

for a gene

b)Heterozygous – possessing 2 different alleles for a gene

What is the relationship between genes, alleles, genotype and phenotype?

1.The type of interaction between the pair of inherited alleles for a gene determines the phenotypea)Dominant allele – expressed, regardless of the

other allele present

b)Recessive allele – not expressed in the presence of a dominant allel

What is a genotype?

A description of the alleles present for a gene

1.Homozygous dominant

2.Homozygous recessive

3.Heterozygous

How is genotype symbolized?

Capital letter = dominant allele

Lower case letter = recessive allele

What is the relationship between genes, alleles, genotype and phenotype?

Tongue rolling gene has 2 different alleles

Rr Rr

Rr Rr rr RR

What is the relationship between genes, alleles, genotype and phenotype?

Not all genes/alleles display dominant/recessive interactions

1.Codominance – both alleles for a gene are expressed (example: two forms of an enzyme)

2. Incomplete dominance – heterozygous phenotype is different from either the dominant or recessive phenotype

3.Many traits influenced by more than one gene

Red flowers and thorns are dominant to white flowers and no thorns in roses. What would be the phenotype of a rose heterozygous for both traits?

1.RrTt

2.Red, thorny

3.RRTT

4.White, thornless

5.rrtt

Red flowers and thorns are dominant to white flowers and no thorns in roses. Which of the following can be a genotype for a red, thorny rose?

1.RT

2.RRTT

3.RrTT

4.RrTt

5.2, 3 & 4

What is genetic linkage?

Genes located close together on the same chromosome are genetically linked (i.e they tend to get inherited together)

Mapping is based on genetic linkage

Mapping – identifying the location of a gene on a chromosome

Some genes are more likely to stay together (during meiosis), other genes are not

11 22 33 44

5566 77

Genetic linkage vs. independent assortment

Which genes are most likely to be inherited together?

11 22 33 44

5566 77

1a1a 2a2a 3a3a 4a4a

5a5a 6a6a 7a7a

Which genes are most likely to be inherited together?

1)2 & 2a

2)1 & 5

3)1a&2a

4)5&7

5)1a & 4a

6)Responses 3, 4 & 5 are all correct

1 2 3 4

56 7

1a 2a 3a 4a

5a 6a 7a

Independent assortment of chromosomes “shuffles” maternally inherited and paternally inherited genes during meiosis

1 2 3 4

56 7

1-7 = genes materally inherited (maternal alleles)

1a-7a = genes paternally inherited (paternal alleles)

5a 6a7a

1a 2a 3a 4a 1 2 43

1a 2a 3a 4a 56 7

5a 6a7a

Crossing over breaks genetic linkage

1a2a 3a 4a

24

3

1

1a2 43

1 2a 3a 4a

How can inheritance be predictive?

How can one know if two genes are located on the same chromosome or on different chromosomes?

A

A

B

BA

A B

B

Mapping genes and genetic crosses

Cross individuals different in two genetic traits:

AABB x aabb

II. The foundation of genetics

A. Gregor Mendel (1860s)

PPPP pppp

PpPp

genotypes

(phenotype) (phenotype)

Pp x PpPp x PpPP

pp

PP ppPossible Possible gametesgametes

PP pp PP pp

Homologous pairs are separated in meiosis

meiosismeiosis

Pp x PpPp x PpPP

pp

PP pp

PPPP

PpPp

PpPp

pppp

Possible Possible gametesgametes

Geneticists utilize dihybrid crosses

Dihybrid crosses involve two genes

AABB x aabb

A

A

B

B

Assuming independent assortment

Genetic linkage

A

A B

B A

AB

Boror

Are the two genes for eye color located on the same chromosome?

AABB x aabb

F1: all AaBb

Self the F1

AaBb x AaBb

What types of gametes are produced?

Gametes, assuming independent assortment

a

A

b

B

a

A

B

b

a

A B

b

or

Ab

aB

AB

ab

AaBb

Gametes, assuming independent assortment

a

A

b

B

a

A

B

b

a

A B

b

or

Ab

aB

AB

ab

AaBb

Independent assortment

Gametes, assuming complete linkage

a

AB

b

AaBb

a b

A BAB

ab

Complete linkage

AaBb x AaBb

ABAB

ABAB

abab

abab

AABB

AaBb

AaBb

aabbaa

AA BB

bb

Genetic linkage can be broken

Crossing over can break linkage

Gametes produced:

AB

Ab

aB

ab

Gametes, assuming independent assortment

a

A

b

B

a

A

B

b

a

A B

b

or

Ab

aB

AB

ab

AaBb 25%

25%

25%

25%

Gamete frequency – linked genes

a

AB

b

No crossing over

AB

ab

With crossing over AB

ab

Ab

aB

50%

50%

40%

40%

10%

10%

Linkage between genes varies with distance between genes

A B C D

a b c d

Linkage vs. independent assortment

For two single gene traits, if perform a dihybrid cross of heterozygotes:Independent assortment gives 4 phenotypes

in offspring

Complete linkage gives <4 phenotypes

Partial linkage gives 4 phenotypes in a different ratio than independent assortment

Genetics & disease

Most disease genes are autosomal & recessive (Most mutations function as recessive alleles to “normal” functioning alleles)

Each person is a “carrier” of several recessive disease related alleles

Sex-linked traits

• Genes located on X-chromosome

• Males possess only 1 allele for sex-linked traits