Genetic Analysis: An Integrated Approach (3rd Edition)
Genetic Analysis: An Integrated Approach (3rd Edition)
3rd Edition
ISBN: 9780134605173
Author: Mark F. Sanders, John L. Bowman
Publisher: PEARSON
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Chapter 3, Problem 34P

Duchenne muscular dystrophy (DMD; OMIM 310200) and Becker muscular dystrophy (BMD; OMIM 300376) are both X-linked recessive conditions that result from different mutations of the same gene, known as dystrophin, on the long arm of the chromosome. BMD and DMD are quite different clinically. DMD is a very severe disorder that first appears at a young age, progresses rapidly, and is often fatal in the late teens to 20s. BMD, on the other hand, is much milder. Often symptoms don’t first appear until the 40s or 50s, the progression of the disease is slow, and fatalities due to BMD are infrequent. Go to https://www.ncbi.nlm.nih/omim and survey the information describing the gene mutations causing these two conditions. Discuss the information you find with a few others in a small group, and write a single summary explaining your findings.

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Two related forms of muscular dystrophy—Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)—are both recessive, X-linked, single-gene conditions caused by point mutations, deletions, and insertion in the dystrophin gene. Each mutated form of dystrophin is one allele. Of the two diseases, DMD is much more severe. Given your knowledge of mutations, the genetic code, and translation, propose an explanation for why the two disorders differ greatly in severity.
Anhidrotic ectodermal dysplasia is an X-linked recessive disorder in humans characterized by small teeth, no sweat glands, and sparse body hair. This trait is usually seen in men, but women who are heterozygous carriers of the trait often have irregular patches of skin with few or no sweat glands (see the illustration below). a. Explain why women who are heterozygous carriers of a recessive gene for anhidrotic ectodermal dysplasia have irregular patches of skin lacking sweat glands. b. Why does the distribution of the patches of skin lacking sweat glands differ among the females depicted in the illustration, even between the identical twins?
Duchenne muscular dystrophy is an X-linked, recessive disorder in which muscles waste away early in life, resulting in death in the teens or twenties. A man and woman in their late thirties have five children—three boys (ages 1, 3, and 10 years) and two girls (ages 5 and 7 years). The oldest, boy shows symptoms of the disease. What are the probabilities that their other children will develop the disease?  Give only typing answer with explanation and conclusion

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Genetic Analysis: An Integrated Approach (3rd Edition)

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