The following is a pedigree that shows the inheritance of a rare completely pene
ID: 40522 • Letter: T
Question
The following is a pedigree that shows the inheritance of a rare completely penetrant autosomal dominant disorder. DNA samples from generations I, II, III and IV were obtained and subjected to RFLP analysis. The results of the analysis are shown below. The RFLP marker used for the top panel is marker #135, and the one used for the bottom panel is marker #219, both in chromosome 17.
Question 1:
a) Can you determine if the gene causing the disorder is on chromosome 17? Explain in detail your conclusions.
The following is a pedigree that shows the inheritance of a rare completely penetrant autosomal dominant disorder. DNA samples from generations I, II, III and IV were obtained and subjected to RFLP analysis. The results of the analysis are shown below. The RFLP marker used for the top panel is marker #135, and the one used for the bottom panel is marker #219, both in chromosome 17. Question 1: a) Can you determine if the gene causing the disorder is on chromosome 17? Explain in detail your conclusions.Explanation / Answer
Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. The signs and symptoms of Miller-Dieker syndrome are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. The loss of a particular gene on chromosome 17, called PAFAH1B1, is responsible for the syndrome's characteristic sign of lissencephaly, a problem with brain development in which the surface of the brain is abnormally smooth. The loss of another gene, called YWHAE, in the same region of chromosome 17 increases the severity of lissencephaly in people with Miller-Dieker syndrome. Additional genes in the deleted region contribute to the varied features of Miller-Dieker syndrome
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