ww Dong 7. This family has members who suffer from a rare disorder (abbreviated PMĚ) that...
ww Dong 7. This family has members who suffer from a rare disorder (abbreviated PMĚ) that presents with action myoclonus, and progressive neurological decline. (6 pts) Figure 1. Family pedigree and magnetic resonance imaging. (A) The six-generation family showing segregation of PME and ataxia. (B) Normal brain MRI of proband at 9 years. (C) Brain MRI of younger affected sister at 18 months showing callosal agenesis, a large interhemispheric cyst and simplified gyration frontally. PME a. What is the mode of inheritance for this disorder, PME? b. The mutation that is "segregating' is identified as LMNB2 c.469C>T (p.His 157Tyr). LMNB2 is the name of the gene. What does c.469C>T (p. His 157Tyr) mean? Would you classify this mutation as a frameshift, nonsense, or missense? c. Imagine that the mutation in this family affects a restriction site, such that the wild type allele is GAATTC and the mutant allele is GAATTT. We could make a simple test to determine the genotypes of many family members. Imagine that we amplify the relevant region of the LMNB2 gene by PCR, and then digest the PCR product with the restriction enzyme. Which allele of the LMNB2 gene (wild type or mutant) will be cut by the restriction enzyme?