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Huntington's disease (HD) is caused by the expansion of a CAG trinucleotide repeat in the HTT gene. The number of repeats determines the likelihood of developing the disease and can influence the age of onset. Typically, individuals with 40 or more repeats will Show more…
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5. Huntington's disease is a genetic disease where >42 repeats of CAG in the huntingtin gene can lead to the disease phenotype. Below are the electrophoresis results for a PCR that was performed on patients 1-3. (a) Which of the patients has the highest disease risk for Huntington's disease? (1pt) (b) Describe how a technique like PCR works (3 pts) (c) How are copy number variations generated within a given genome ? (1pt) (d) Which technique exploits base complementarity in the detection of genetic variation (1pt)? How does it work? (4pts)
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Huntington's disease is a result of an expanded number of CAG repeats within the HTT gene. Arjan and his wife Alexa, and their four children, have all undergone genetic testing to determine which HTT alleles they carry. The results are shown below (numbers indicate number of CAG repeats carried by each individual): Patient Repeat number Arjan 18, 26 Alexa 24, 52 Child 1 24, 26 Child 2 18, 52 Child 3 26, 52 Child 4 24, 32 a) CAG repeats are an example of which type of molecular marker? b) Which family members have the Huntington's disease associated allele? c) Which child do you suspect may not be the biological child of Arjan and Alexa?
Madhur L.
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