Research during the 1930s led to the discovery of an important region in human chromosomes known as the telomere. The enzyme telomerase enables the replacement of the telomere region in a chromosome. Assure Jane Marlow that gene testing or DNA testing has become a widely used tool to identify many disorders and can be a valuable tool for diagnosing conditions early on so that appropriate steps can be taken to prevent further risks of developing diseases. Addresss the following:
- What is the function of telomeres with regard to cell division?
- If a patient has an abnormality in telomerase activity, how might this contribute to cancer?
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?
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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