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Fignshev Fignshev
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6 years ago
Li-Fraumeni syndrome is a rare inherited disease that greatly increases a person's risk of developing several types of cancer. This disease stems from a mutation in the TP53 tumor suppressor gene (Nichols et al. 2001.
 
  Cancer Epidemiol Biomarkers Prev 10:83-87). In most cases, approximately 95 of the mutations can be detected by sequence analysis of exons 4 through 9. If you isolated and analyzed DNA from a Li-Fraumeni patient, what genotype should you find in DNA isolated from a. normal tissue? b. malignant tissue?
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6 years ago
(a) The DNA from normal tissue should reveal one loss-of-function TP53 mutation (TP53-/TP53+).
(b) Malignant tissue should show loss of both alleles (TP53-/TP53-).
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