Duchenne’s muscular dystrophy (DMD) is an X-linked disease that causes progressive muscle weakness and is often fatal. “XD” represents the wild type allele, and “Xd,” the mutant allele. Jonah is XDXd Y and his brother Pete is Xd Y. Jonah and Pete BOTH have DMD of equal severity and phenotypes. You might have thought Jonah’s DMD would be less severe given his genotype. To better understand the situation, you investigate Jonah’s Xist chromosome region in his defective muscle cells. Which of the following is consistent with his phenotype

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Chapter6: Cytogenetics: Karyotypes And Chromosome Aberrations
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Problem 2QP: Given the karyotype shown at right, is this a male or a female? Normal or abnormal? What would the...
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Duchenne’s muscular dystrophy (DMD) is an X-linked disease that causes progressive muscle weakness and is often fatal. “XD” represents the wild type allele, and “Xd,” the mutant allele. Jonah is XDXd Y and his brother Pete is Xd Y. Jonah and Pete BOTH have DMD of equal severity and phenotypes. You might have thought Jonah’s DMD would be less severe given his genotype. To better understand the situation, you investigate Jonah’s Xist chromosome region in his defective muscle cells. Which of the following is consistent with his phenotype? (Select all that apply.)


The Xd-containing chromosome is inactive in defective muscle cells.

The XD-containing chromosome has a methylated Xist promoter.

The XD-containing chromosome has an unmethylated Xist promoter.

The Xd-containing chromosome is active in defective muscle cells.

 

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