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Question(s) / Instruction(s):

1) Describe how the recent discoveries discussed in this article have totally changed the original approach (Hap Map) to the detection of genetic mutations that cause disease. What is surprising about the genetic inheritance of mutations leading to cancer

2) Explain what SNP chips are used to detect and the basic approach involved in this method.

3) Draw a diagram of a pedigree of Dr. Lupski’s extended family, using circles and squares to show gender and darkened symbols indicating the expression of the Charcot-Marie-Tooth disease. Using a Punnett square, show what would be the expected outcomes (genotypic and phenotypic probabilities and ratios) for the progeny of Dr. Lupski and his spouse, if his spouse is a carrier of the disease.

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