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

In this question Normal person PCR product will be give the one PCR product and after digestion with Eco RI give the two bands on running on gel.

Normal person will give two bands and according to this if any person give the band at same position will be normal for particular gene.

Patient 1 does not carrying this genetic disorder because after digestion bands pattern is similar to as normal persons pattern.

Patient 2: having homozygous mutation for the both genes because no product is matching with normal person.

Patient 3: is heterozygous for this allele because an additional product is coming while comparing with normal Eco RI digested product. Matching with normal person is indicating that one gene or allele is not mutated.

Patient 4: this patient is homozygous for the allele because no product is matching with the normal sample. Because one pattern should resemble with normal indicate that one allele is normal.

Patient 5: this patient is also homozygous mutation for the same allele. Matching of one digested PCR will not indicate that this is heterozygous.

Patient 6: This patient is heterozygous for the allele because PCR product is matching with the normal. This indicates that one allele is normal that is giving the digestion pattern like normal person and one is mutated that is giving additional band.

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