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15 Cards in this Set
- Front
- Back
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pedigree |
diagram full of familial relationship and transmission of traits |
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how is a pedigree useful? |
-can indicate genetic component to disease and find the gene responsible -useful in cloning disease gene |
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4 primary patterns of inheritance (+1 rare) |
1. autosomal recessive 2. autosomal dominant 3. X-linked recessive 4. X-linked dominant 5. Y-linked (RARE) |
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autosomal recessive: if mutant rare in pop. and no children are affected, assume genotype is.... |
homozygous dominant (AA) |
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clues to autosomal recessive pattern |
1. unaffected parents having affected offspring 2. both sexes affected equally 3. tends to skip generations 4. two affected parents produce all affected children 5. one affected and one unaffected parent usually produce all unaffected 6. trait is more frequent among offspring of related parents |
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examples of autosomal recessive inherited gene disorders |
1. albinism 2. cystic fibrosis 3. sickle cell anemia 4. phenylketonuria 5. methylmalonic acidemia |
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autosomal dominant: clues to pattern |
1. traits tend to appear in every generation 2. both sexes affected equally 3. unaffected parents produce only unaffected offspring 4. two affected parents can produce unaffected children 5. on average, half the children of an affected parent will be affected |
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examples of autosomal dominant diseases |
1. Huntington's disease 2. pseudo-achondroplasia (dwarfism) 3. brachydactyly (short fingers) |
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X-linked recessive: clues to pattern |
1. affected males are more common than females 2. effected fathers transmit gene to daughters, not sons 3. none of sons of effected father are affected or carry trait (unless mother carries) 4. on average, half the sons of women whose father was affected will be affected 5. a daughter will be affected only if father is affected and her mother is at least homozygous |
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examples of X-linked recessive diseases |
1. hemophilia A 2. colorblindness 3. Duchenne muscular dystrophy 4. Lesch-Nyhan |
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X-linked dominant: clues |
1. effected males never have effected sons (unless mom affected) 2. all daughters of effected males are affected 3. on average, half the sons and daughters of effected mothers are affected |
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example of X-linked dominant disease |
hypophosphatemia |
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another name for Y-linked |
holandric |
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Y-linked: clues |
1. transmitted from fathers to all sons 2. no females exhibit trait |
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example of Y-linked disease |
possibly hairy ears |
