08 - Beyond Mendel Penetrance, epistasis, expressivity,...

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MCB140 02-08-08 1 Beyond Mendel Penetrance, epistasis, expressivity, genotype-enviroment interactions
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MCB140 02-08-08 2 Well, you may think the world's black and white And you're dirty or you're clean You better watch out you don't slip Through them spaces in between Bruce Springsteen “Cross My Heart”
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MCB140 02-08-08 3 Suzanne Vega Mitsuko Uchida Tracy Chapman
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MCB140 02-08-08 4 Sickle-cell anemia – a brief history “In the western literature, the first description of sickle cell disease was by a Chicago physician, James B. Herrick, who noted in 1910 that a patient of his from the West Indies had an anemia characterized by unusual red cells that were sickle- shaped.” By 1923, it was realized the condition is hereditary. In 1949, Neel realized that patients with SCA are homozygous, and heterozygous
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MCB140 02-08-08 5 Sickle cell anemia NIH: “Sickle cell anemia is the most common inherited blood disorder in the United States, affecting about 72,000 Americans or 1 in 500 African Americans. SCA is characterized by episodes of pain, chronic hemolytic anemia and severe infections, usually beginning in early childhood.”
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MCB140 02-08-08 6 Pleiotropy Steinberg M. N Engl J Med 1999;340:1021-1030
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MCB140 02-08-08 7 RFLP!!!
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MCB140 02-08-08 8
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MCB140 02-08-08 9 Incomplete dominance
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MCB140 02-08-08 10 Penetrance and expressivity “The terms penetrance and expressivity quantify the modification of the influence on phenotype of a particular genotype by varying environment and genetic background; they measure respectively the percentage of cases in which a particular phenotype is observed when the specific allele of a gene of interest is present and the extent of that phenotype.”
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MCB140 02-08-08 11 Variable expressivity The importance of genetic background
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MCB140 02-08-08 12 Treatment Directed at the Relief
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This note was uploaded on 08/01/2008 for the course MCB 140 taught by Professor Urnov during the Spring '08 term at University of California, Berkeley.

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08 - Beyond Mendel Penetrance, epistasis, expressivity,...

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