4) Suppose that Gene A corresponds to a human disease gene. Many patients had th

Question

4) Suppose that Gene A corresponds 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 endonuclease EcoRI. The following pattern was found for the different patients. 0 EcoRI norma Pt 1 Pt 2 Pt 3 Pt 4 Pt 5 Pt 6 The patients do NOT necessarily have the disease. From the pattern of digestion, answer the following: A. Which patient(s) could be normal for the disease? B. Which patient(s) are likely to have the disease? C. Which patient(s) could be haploinsufficient and show the disease? D. Assuming no haploinsufficency among the alleles, suppose that patien and 6 had a child What is the probability 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 probability that a child will be affected? F. Draw a map of gene A and indicate possible sites for the mutations and EcoRI site(s)

Explanation / Answer

Answer. A] Patient 2 is normal for the disease. As it is the only which show normal Digestion compared with normal.

B] Patient 3,4, and 5 have the disease as they show different band compared to normal.

C] Patient 1 and 6 are haplosufficient, means a person have the normal gene and mutant gene so normal gene is expressed and mutant gene is not expressed then the expression is 50%. so expression of both are needed for proper functioning and Patient 1 and 6 are diseased.

D] If there is no haplosufficency then the probability of the child would be affected is 0.25.

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