Familial Hypercholesterolemia (FH) exhibits semidominant lethality

Source: www.msstate.edu
Topic: Familial hypercholesterolemia
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Sort Desciption: FF. Fibroblast + blood. cells. FF. F. F. Familial Hypercholesterolemia ... Severity of atherosclerosis in genetically selected birds ...

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Familial Hypercholesterolemia (FH) exhibits semidominant lethality Genotypes Prevalence Effect FF Fibroblast + blood cells FF ? F ? F ? Familial Hypercholesterolemia (FH) exhibits semidominant lethality Genotypes Prevalence Effect Normal plasma LDL level Most people 2 x normal plasma LDL level (heart attacks by 35 years of age, and 1/20 under 60) 1/500 people 1/1,000,000 people 6 x normal plasma LDL level (heart attacks 2-20 years of age) Fibroblast + blood cells Fibroblast + blood cells Normal receptor numbers 1/2 normal receptor numbers Lacking normal receptors Example of Environmental Genetic interaction Severity of atherosclerosis in genetically selected birds (for high blood cholesterol concentration) Chol added to diet No chol added to diet Moderate Low Severe Moderate HL LL Organism (overall viability) normal normal anemia (death) Dominance Hb A Hb A Hb A Hb a Hb a Hb a Cellular (RBC shape) normal sickle-low O 2 sickle Semi-dominance Hb A Hb A Hb A Hb A Hb A Hb A Molecular (hemoglobin type) 1/1 normal 1/2 normal, 1/1 mutant (S) 1/2 mutant (S) Co-dominance Hb A Hb A Hb A Hb S Hb S Hb S Allelic Relationships at three levels in Sickle Cell Anemia Penetrance: The percentage of individuals that show a particular phenotype to any degree among those capable of showing it. Penetrance is affected by modifier genes, epistatic genes, or suppressor genes in the rest of an organisms genome or because of modifying effects of the environment. Expressivity: The degree of effect ...

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