The HbβS(sickle-cell) allele of the human β-globingene changes the sixth amino acid in the β-globinchain from glutamic acid to valine. In HbβC, the sixthamino acid in β-globin is changed from glutamic acidto lysine. What would be the order of these two mutations within the map of the β-globin gene?
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The HbβS
(sickle-cell) allele of the human β-globin
gene changes the sixth amino acid in the β-globin
chain from glutamic acid to valine. In HbβC, the sixth
amino acid in β-globin is changed from glutamic acid
to lysine. What would be the order of these two mutations within the map of the β-globin gene?
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- Considering Figure 2-13, if you had a homozygous double mutant m3/m3 m5/m5, would you expect it to be mutant in phenotype? (Note: This line would have two mutant sites in the same coding sequence.)Sandhoff disease is due to a mutation in a gene that encodes a proteincalled hexosaminidase B. This disease has symptoms that aresimilar to those of Tay-Sachs disease. Weakness begins in the first 6 months of life. Individuals exhibit early blindness and progressive mental and motor deterioration. The family in the pedigree shown below has three members with Sandhoff disease, indicated with black symbols.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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- Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?In this gene order question, would the order be a/b -- kf -- nm since genes with shorter map unit distances are closely linked?In a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus. Q. What characteristics of the pedigree rule out inheritance of a trait encoded by a gene in the mtDNA as the cause of this disorder?