Chromosomes and Human Genetics

Chapter 20

Epigenetics
Swedish study citation
Overeating in adolescence leads to decrease in survival of grandchildren
Acta Biotheoretica 49: 5359, 2001 European Journal of Human Genetics (2006) 14, 159166 Summary-European Journal of Human Genetics (2006) 14, 131132

NOVA program documenting epigenetics

Ghost in your genes original airdate October 16, 2007

Genes and chromosomes- a review

Particular locus for each gene
A diploid cell has homologous pairs of chromosomes; one from each parent Crossing over occurs in meiosis Genes in a diploid cell have two alleles Independent assortment of chromosomes

Some traits are inherited together though linkage

Linkage between genes if the distance between them is short
Less likely to be separated during crossing over Tend to stay together/inherited together

The sex chromosomes

Human sex chromosomes
X chromosome
XX: female Most genes deal with nonsexual characteristics Genes referred to as X-linked genes XY: male SRY gene Genes referred to as Y-linked genes

Y chromosome

Which parent determines the sex of the baby?

X-inactivation
X inactivation
Most or all of one of a females X chromosomes turned off soon after first division of zygote Condenses into a Barr body

Incontinentia pigmenti

X-linked disorder Darker patches of skin color are visible in tissue where the mutated X chromosome is active

Inheritance of genes on the sex chromosomes

X-linked disorders Usually affects males. Why?

Most X-linked traits are recessive

Pattern of inheritance:

Rest of the semester

Today through next Wed-continue with unit on genetics Thursday/Friday next week poster presentations Monday Dec 12th-in class video and worksheet Wednesday Dec 14th-quiz #7 Web-based documentary plus associated worksheet will be assigned on Monday and due at end of semester Health packet due at end of semester (Wednesday December 21)

Examples of X-linked disorders

Hemophilia
Hemophilia A
Most common form Mutation in the gene for the clotting protein factor VIII

Duchene muscular dystrophy

Queen Victorias family had higher frequency of hemophilia due to marriage between close relatives Mutated form of muscle support protein dystrophin Muscles degenerate, lose ability to walk Usually die by age 20 from cardiac or respiratory failure

Inheritance of genes on the autosomes

Many genetic disorders are autosomal recessive Pattern of inheritance:

Examples of autosomal recessive disorders

Cystic fibrosis
Faulty CFTR gene (inherited from both parents) Fatal usually before the age of 30 Symptoms

Treatments

Thickened mucus: clogs airways Infections

Physiotherapy; thumping on the back and chest to loosen mucus Antibiotics to cure infections

Inheritance of genes on the autosomes

Some autosomal genetic disorders are dominant How do these genes persist?
Pattern of inheritance:

Examples of autosomal dominant disorders

Huntington Disease
Progressive degeneration of nervous system Symptoms appear after age 30; fatal Mutation on chromosome 4

Sickle cell anemia and sickle cell trait

Sickle-cell anemia- homozygous recessive
One amino acid substitution in hemoglobin
Val instead of glu

Sickle cell trait-heterozygous

Heterozygote advantage Confers resistance to malaria

Pleiotropic effects Relatively common for a recessive genetic disorder. Why?

Frequencies of the sickle-cell allele 02.5%

Distribution of malaria caused by Plasmodium falciparum (a parasitic unicellular eukaryote)

2.55.0% 5.07.5% 7.510.0% 10.012.5%

>12.5%

Female Male

Pedigrees

Individuals with the trait

Chromosomal abnormalities
Mutation Translocation Changes in chromosome number

Translocation

Changes in Chromosome number

Aneuploidy
Embryo does not have an exact multiple of 23 chromosomes

Polyploidy

Embryo has three, four, or more sets of 23 chromosomes

Chromosome numbers can change during mitosis, meiosis, or fertilization

Changes in Chromosome number: nondisjunction

Nondisjunction
One or more pairs of chromosomes fails to separate during cell division Increases with a womans age If such a gamete is fertilized
Trisomy Monosomy

Down syndrome; trisomy 21

Mental retardation, abnormal skeletal development, motor functions delayed, and weaker muscles

Changes in Chromosome number: nondisjunction in sex chromosomes