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Genetic Variations

1. Duchenne muscular dystrophy (DMD) is an X-linked disease for which prenatal diagnostic testing can be performed. Has prenatal genetic testing increased the detection rate of this disease, compared to prior diagnostic methods? If so, how? If not, why? In case the fetus is diagnosed with DMD and parents decide to terminate the pregnancy, are there chances that the next child will also be a carrier of the disease?

2. Jane Hill's husband, Charlie Marlow, has hemophilia A when he marries Hill, who does not have the disorder. Jane's parents also do not have hemophilia, but her brother Steve Hill does. What is the probability that the Marlows' son will have the disorder? What is the probability that their daughter will have hemophilia? Are there chances that their daughter will be a carrier of this disorder?

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1. Genetic testing can detect Duchenne Muscular Dystrophy (DMD) if a known mutation is present. Prenatal genetic testing has increased the rate of DMD detection. The following article, http://www.nature.com/ejhg/journal/v21/n1/full/ejhg2012101a.html, discusses the lack of DNA testing for female fetuses. However, due to their possible carrier ability, the author felt this policy needs to change. Another option for DMD detection is neonatal testing. This is also discussed in the ...

Solution Summary

This solution discusses the transmission of X-linked diseases by providing external information sources as well as a PowerPoint presentation with diagrammatic explanations.

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