In squirrels, individuals that are heterozygous for the mutant LDL receptor gene( Fa) begin to experience heart attacks at the squirrel equivalent of the 30’s and 40’s in humans, while individuals that are homozygous for the mutant LDL receptor allele experience heart attacks much earlier. Closer examination reveals that the hepatocytes of the homozygous normal squirrels contain ONLY normal receptors. In the hepatocytes of the heterozygous squirrels, 50% of the receptors are of the mutant type, and fail to bind the LDL cholesterol, while the other 50% are normal. In individuals homozygous for the mutant LDL receptor allele, only mutant receptors are present.

Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN:9781305251052
Author:Michael Cummings
Publisher:Michael Cummings
Chapter11: Genome Alterations: Mutation And Epigenetics
Section: Chapter Questions
Problem 20QP: The cystic fibrosis gene encodes a chloride channel protein necessary for normal cellular functions....
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In squirrels, individuals that are heterozygous for the mutant LDL receptor gene( Fa) begin to experience heart attacks at the squirrel equivalent of the 30’s and 40’s in humans, while individuals that are homozygous for the mutant LDL receptor allele experience heart attacks much earlier. Closer examination reveals that the hepatocytes of the homozygous normal squirrels contain ONLY normal receptors. In the hepatocytes of the heterozygous squirrels, 50% of the receptors are of the mutant type, and fail to bind the LDL cholesterol, while the other 50% are normal. In individuals homozygous for the mutant LDL receptor allele, only mutant receptors are present.   NAME and DEFINE the genetic phenomenon observed here. 

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