Alcohol dehydrogenase is an enzyme that breaks down ethanol. You examine 6 patie
ID: 35648 • Letter: A
Question
Alcohol dehydrogenase is an enzyme that breaks down ethanol. You examine 6 patients (numbered 1-6), each of whom has an mutated version of the alcohol dehydrogenase gene, called Ald. You obtain DNA, mRNA, and protein samples from the livers of each of these patients, and run a Southern (digested with EcoRI), a Northern, and Western of these samples (shown at right, along side the position of size standards). You also run the samples of an individual with a wild-type Ald gene (indicated by WT). You probe the Southern and the Northern using an Ald cDNA as a probe. You probe the Western with an antibody that recognizes the first 10 amino acids of the Alcohol dehydrogenase protein. Assume all patients are homozygous for their mutation in the Ald gene. For each patient, indicate the most likely molecular nature of their Ald mutation from the multiple choice list below. One answer per patient. If needed, you can use an answer more than once.
A. Missense mutation.
B. Nonsense mutation.
C. Mutation in the promoter.
D. Deletion of part of the gene.
E. Deletion of the whole gene.
Alcohol dehydrogenase is an enzyme that breaks down ethanol. You examine 6 patients (numbered 1-6), each of whom has an mutated version of the alcohol dehydrogenase gene, called Ald. You obtain DNA, mRNA, and protein samples from the livers of each of these patients, and run a Southern (digested with EcoRI), a Northern, and Western of these samples (shown at right, along side the position of size standards). You also run the samples of an individual with a wild-type Ald gene (indicated by WT). You probe the Southern and the Northern using an Ald cDNA as a probe. You probe the Western with an antibody that recognizes the first 10 amino acids of the Alcohol dehydrogenase protein. Assume all patients are homozygous for their mutation in the Ald gene. For each patient, indicate the most likely molecular nature of their Ald mutation from the multiple choice list below. One answer per patient. If needed, you can use an answer more than once. A. Missense mutation. B. Nonsense mutation. C. Mutation in the promoter. D. Deletion of part of the gene. E. Deletion of the whole gene. F. Mutation in a splice acceptor site at one of the intron/exon junctions. PExplanation / Answer
1. Deletion of part of the gene.
2. Nonsense mutation
3. Missense mutation.
4. Mutation in the promoter.
5. Mutation in a splice acceptor site at one of the intron/exon junctions
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