two types of mutations gene mutation: single gene defective insertion substitution deletion...
TRANSCRIPT
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Two Types of Mutations Gene mutation: single gene defective
Insertion Substitution Deletion
Chromosomal mutation: missing or extra chromosome Monosomy Trisomy Deletion
Either can involve autosomes (chromosomes 1-22) or sex chromosomes
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Autosomal Disorders
Disorders involving the 22 pairs of chromosomes that are NOT sex chromosomes (X,Y).
Can result from Gene mutation: defective gene
on autosome Chromosomal mutation: loss
or gain of autosome
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Autosomal DisordersGene Mutations
1- Cystic Fibrosis Recessive disorder Mutated gene on
chromosome 17. Characterized by excessive,
THICK secretion of the mucus in the body.
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Autosomal DisordersGene Mutations
2- Huntington Disease Dominant disorder Mutated gene on
chromosome 4 is responsible.
Causes degeneration of neurons producing dementia, and random jerking movements.
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Autosomal DisordersGene Mutations
3- Phenylketonuria (PKU) Recessive disorder Mutated gene on chromosome
12 is responsible4- Sickle-Cell Anemia 1 of 12 U.S. African Americans Recessive disorder Mutated gene on chromosome
11
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Autosomal DisordersGene Mutations
5- Tay-sachs Disease Recessive disorder European Jewish ancestry. Mutated gene on
chromosome 15 Tay-sachs—One Wrong Letter
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Autosomal DisordersChromosomal Mutations
Down Syndrome 1 in 1,000 live births. Extra Chromosome 21 Risk increases with
mom’s age Pregnancies of women
over age 35 accounts for20% of Down syndrome
births
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Sex-Linked Disorders Involve the sex chromosomes Recessive gene on the X chromosome is more
likely to be expressed in males ***Y chromosome has no 2nd allele that might
counteract the gene on the X chromosome!
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Sex-Linked DisordersGene Mutations
1- Color Blindness X-linked recessive disorder Gene mutation on X
chromosome 1 of 10 males
2- Hemophilia X-linked recessive disorder Gene mutation on X
chromosome. 1 of 5,000 males Interfere with normal blood
clotting
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Sex-Linked DisordersChromosomal Mutations
1- Klinefelter Syndrome (XXY) 1 of 1,000 males. Extra X chromosome
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Sex-linked DisordersChromosomal Mutations
2- Turner’s Syndrome (XO) 1 of 10,000 females One of X chromosomes is either
missing or inactive Have immature female appearance
and lack internal reproductive organs.
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GENETIC DISORDERS
Autosomal DisordersChromosomes 1-22
Sex-Linked DisordersSex Chromosomes X and Y
Gene Mutations1 gene mutated
on chromosomes 1-22
ChromosomalMutations
Extra or missing chromosome 1-22
Gene Mutations1 gene mutated
on X chromosome
ChromosomalMutations
Extra or missing Sex chromosome
EXAMPLES?
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How Do We Know About All of Our Genes?
Human Genome Project Began in 1990
Goals: Determine complete sequence of the
3 billion DNA bases in human DNA Identify all human genes for further
biological study
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The Unknown
Gene number, exact locations and functions
Gene regulation DNA sequence organization Chromosomal structure and
organization
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Ethical, Legal and Social Issues
Fears Genetic information used to harm or
discriminate Deny access to health insurance Deny employment Deny education Deny loans?
DNA Databases