Lecture 3 - BIS101-001 Lecture 3. Human Genetics Phenotypes...

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BIS101-001 Lecture 3. Human Genetics Phenotypes and Genotypes Allelic interactions Complementation
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Thiopurine S-methyltransferase Have you had a genetic test to determine the appropriateness or dosage of a given medication? A. Yes B. No C. I d prefer not to say
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Have you had a genetic test of any kind? A. Yes B. No C. I d prefer not to say
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LECTURE 3: OUTLINE Human Genetics four modes of inheritance Phenotypes and genotypes Molecular nature of mutations Continuous and discontinuous variation Penetrance and expressivity Allelic interactions Hierarchy of dominance Incomplete dominance and co-dominance Recessive lethality, dominant lethality Complementation
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Human Genetics -no controlled crosses -long generation time -small # of progeny Therefore, often deal with probability, seldom see Mendelian ratios
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1. Affected children often from unaffected parents. 2. On average 1/4 of children are affected in mating of 2 heterozygotes. 3. Equal numbers of affected males and females. 4. Depending how rare the affected allele is, matings of affected individuals to unrelated, unaffected individuals usually produce normal offspring. Conversely, consanguineous marriages have a much higher chance to produce affected offspring. e.g. Cystic fibrosis (1/25 het in pop), PKU Autosomal Recessive
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1. Many more males than females affected. 2. None of the offspring of an affected male are affected. 3. None of the sons of an affected male are affected or will pass on the disease allele. e.g., Red-green colorblindness, hemophilia X-linked recessive
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1. Affected children have at least one affected parent. 2. Usually 1/2 children are affected. Most dominant disease traits are rare so most affected individuals are heterozygotes. 3.
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This note was uploaded on 09/07/2009 for the course BIS BIS 101 taught by Professor Sanders during the Spring '09 term at UC Davis.

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Lecture 3 - BIS101-001 Lecture 3. Human Genetics Phenotypes...

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