4) Suppose that Gene A cormresponds to a human disease gene. Many patients had t
ID: 3164806 • Letter: 4
Question
4) Suppose that Gene A cormresponds to a human disease gene. Many patients had their genomic DNA isolated and amplified for the Gene A region. The PCR products were digested with the ndonaclease EcoRL Te following parters was found for the different patients The patients do NOT necessanily have the disease. From the pattern of digestion, answer the following A. Which paticntís) could be normal for the discase B. Which patien(s) are likely to have the disease? C. Which patient(s) could be haplinsufficient and show the discase? D. Assuming no haploinsufficency anmong the alleles, suppose that patient 1 and 6 had a child. What is the peobability that a child will be affected E. Assuming no haploinsufficency among the alleles, suppose that patient 3 and 4 had a child What is the peobability that a child will be affected F. Draw a map of gene A and indicate possible sites for the mutations and EcoRI sitols).Explanation / Answer
Please find the answers below:
Answer A: Patients 1, 2 and 6 seem to be normal for the disease since they have similar band pattern as compared to the normal individual.
Answer B: Patients 3,4 adnd 5 seem to be affected from the disease since they either do not contain the similar restriction site in their genome or have dissimilar restriction digestion pattern as compared to normal individual.
Answer C: Patients 1 and 6 seem to be haploinsufficient in nature since they contain only a single copy of the normal allele when compared to the normal individual. This suggests that the other copy of the allele must be defective in nature.
Answer D: If patients 1 and 6 had a child together, they each will contribute 50% with respect to the defective allele. Hence half of their children would be affected and there are 50% chances that the couple would have affected child.
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