Mendelian Inheritance Part 2

Multiple Alleles
More than two forms of an allele exist in a population An individual only has two of the alleles

Multiple Blood Alleles

A allele for making the A antigen on red
blood cells

B allele for making the B antigen on red

blood cells

O allele for NOT making the A or B antigen

on red blood cells

Three alleles give four blood types

AA or AO = Type A blood

BB or BO = Type B blood

AB = Type AB blood

OO = Type O blood

Codominance: Blood Type

California Court Case

1946 the California supreme court ruled that Charlie Chaplin was the biological father of a child he claimed was not his. His defense was that the baby had type B blood. He had type A and the woman who sued him had type O (These may not be the actual
blood types, but it illustrates the point)

Was the court correct?

AA, AO = Type A BB, BO = Type B AB = Type AB OO = Type O

O
A

AO

AO

OO

OO

Mutation
Change in a gene
nucleotide sequence is often altered Produce abnormal protein
Cause a disease (sickle cell anemia) Resistance to a disease (AIDS)

Levels of Mutation
Molecular level
Deletion of nucleotides Addition of nucleotides Substitution of nucleotides

Chromosomal level
Change in structure Change in number of chromosomes

Mutant
Unusual phenotype Mutations cause mutants

Normal

Mutant Has different phenotype because of a change in his DNA

Hemoglobin
Protein molecule made of 4 globin chains
2 alpha chains with 141 amino acids 2 beta chains with 146 amino acids

Sickle Cell Anemia

Gene for making hemoglobin is changed from normal

Normal Hemoglobin Beta Chain

First six amino acids Valine Histidine Leucine Thre. Proline .

Glutamic acid
CTC

Hemoglobin S Beta Chain

First six amino acids Valine Histidine Leucine Thre. Proline . Valine CAC

One nucleotide has changed

Hemoglobin S
Forms long rod like molecules that stretch RBC into a sickle shape Sickled cells obstruct circulation of blood Allele for hemoglobin S is recessive SS = Normal Ss = Carrier ss = Sickle cell anemia

Why is the s allele more common in Blacks than Whites?

Ancestors of Blacks lived in areas where malaria was present Malaria parasite cannot survive on hemoglobin S
Even Ss are immune to malaria

The s allele is beneficial in an environment where malaria is present

Beta Globin Mutations

Over 300 different mutations!

Causes of Mutations
Spontaneous
Random About 1/100,000 chance of a gene mutating

Induced
Caused by mutagens
X-raysbreak DNA UV radiation.Thymine dimers LSDBreak chromosomes Cigarette smokedamages tumor suppressor genes

Spontaneous Mutation
Two people of normal height have a child with dwarfism Bacteria become resistant to antibiotics Cold virus mutates every year
Immunity for this years cold will not protect you from next years cold

AIDS virus (HIV)mutates too fast to make a conventional vaccine

Ultraviolet Light
Causes adjacent Thymines to bond together

A C

T G

T C

A C

T T G

T C

Excision Repair Enzyme

Removes small section of DNA

A C

T T G

T C

Excision Repair
Removes small section of DNA

A C

T C

DNA Polymerase fills in missing nucleotides A C A T T G T C

Xeroderma Pigmentosum
Skin blisters from sun exposure Develop skin cancer as children Recessive gene does not produce DNA repair enzyme

Sunlight Exposure Increases the Risk of Skin Cancer

DNA repair enzymes do not always fix the damage that sunlight inflicts on DNA of skin cells. The more a person is exposed to sunlight, the greater the risk of skin cancer

Homologous chromosomes line up in a double file in metaphase I of meiosis

Homologous Pairs Separate

Four Gametes With Single Chromosomes

Fertilization

Nondisjunction
One pair of chromosomes fails to separate during meiosis

Trisomy

Zygote ends up with 3 chromosomes instead of 2 for a given chromosome pair.

Karyotype
Often arranged with autosomes in descending order and sex chromosomes separate

Normal Male

Normal Female

Trisomy 21 Down Syndrome

Down Syndrome
Large tongue Flat face Single crease across palm Slanted eyes Mental retardation
Some are not

Maternal Age & Down Syndrome

Trisomy 18 Edward Syndrome

Edward Syndrome
Heart defects Displaced liver Abnormal hands Low-set ears Severe retardation 98% abort Lifespan < 1 year

Trisomy 13 Patau Syndrome

Patau Syndrome
Cleft lip and palate Extra fingers & toes
polydactylism

Defects
Heart Brain Kidney

Most abort Live span < 1 month

Klinefelter Syndrome

Klinefelter Syndrome
Breast development Small testes Sterile Low intelligence
Not retarded

Turner Syndrome

Turner Syndrome
Short Not go through pruberty Produce little estrogen Sterile Extra skin on neck

Abnormal Chromosome Numbers

Aneuploidy
Missing or extra chromosome

Polyploidy
Extra set of chromosomes Usually lethal Common in cancer Common in plants

Fetal testing can determine abnormal karyotypes