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genetic heterogeniety
- Thread starter Northerncardinal
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Genetic heterogeneity = Locus heterogeneity or allelic heterogeneity. It's just an umbrella term
Locus heterogeneity = different loci can produce the same phenotype. I.e. a mutation in cystathione synthase or in methionine synthase could both produce homocystinuria, and it's clinical symptoms.
Allelic heterogeneity = different alleles at same locus make the same phenotype. Classic example is Beta-thalassemia. Notice how thalassemia minor and intermedia each have 2 allelic possibilities: http://www.medicalrealm.net/uploads/1/2/7/3/12737542/6848026_orig.jpg)
Phenotypic heterogeneity = mutations in the same gene result in different phenotypes. Like Li Fraumeni syndrome.
Locus heterogeneity = different loci can produce the same phenotype. I.e. a mutation in cystathione synthase or in methionine synthase could both produce homocystinuria, and it's clinical symptoms.
Allelic heterogeneity = different alleles at same locus make the same phenotype. Classic example is Beta-thalassemia. Notice how thalassemia minor and intermedia each have 2 allelic possibilities: http://www.medicalrealm.net/uploads/1/2/7/3/12737542/6848026_orig.jpg)
Phenotypic heterogeneity = mutations in the same gene result in different phenotypes. Like Li Fraumeni syndrome.
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speaking of which, I just created genetics questions for uworld. Much harder than when I took it last. I need to locate that thread that shows which subjects are most covered % wise. I am curious to know what kind of genetics calculations have been on recent exams. anything more than basic HW, I am doomed. cant deal with LOD scores etc.
