ReviewDiploidGenetics

ReviewDiploidGenetics - overexpressed) (e.g Huntingtons...

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Brief review of diploid genetics ©2005 Lee Bardwell Bio 97
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Dominance, Recessiveness Heterozygous genotype --> normal phenotype The mutant allele is ___________ ©2001 Lee Bardwell
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Dominance, Recessiveness Heterozygous genotype --> disease phenotype The mutant allele is ___________ ©2001 Lee Bardwell
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Mutant (disease causing) alleles Loss-of-function mutations --> allele encodes a protein that. .. – Is not made, or has a reduced function, or is non- functional • (e.g Hemophilia) Usually recessive Gain-of-function mutations --> allele encodes a protein that. .. – has a new, disease-causing function • (e.g a promoter mutation causing an mRNA to be
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Unformatted text preview: overexpressed) (e.g Huntingtons disease --> mutant protein forms toxic aggregates) Usually dominant 2005 Lee Bardwell L.O.F. alleles In many cases, having only half the normal amount of a given protein is okay Heterozygous genotype --> normal phenotype The mutant (loss-of-function) allele is recessive 2001 Lee Bardwell L.O.F. alleles II In some cases, having only half the normal amount of a given protein is NOT okay Heterozygous genotype --> disease phenotype Loss-of-function allele is dominant (= haploinsufficiency) 2001 Lee Bardwell...
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This note was uploaded on 04/26/2008 for the course BIO SCI 97 taught by Professor Yu during the Fall '06 term at UC Irvine.

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ReviewDiploidGenetics - overexpressed) (e.g Huntingtons...

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