Analysis of a p53 mutation associated with cancer susceptibility for biochemistry and genetic laboratory courses

We have devised and implemented a module for an upper division undergraduate laboratory based on the amplification and analysis of a p53 polymorphism associated with cancer susceptibility. First, students collected a drop of peripheral blood cells using a sterile sting and then used FTA cards to extract the genomic DNA. The p53 region is then PCR amplified, and the PCR products are digested with the BstUI enzyme to detect the 72 codon polymorphism. Polyacrylamide gel electrophoresis is used to resolve the PCR products, and the results are statistically analyzed in the context of human population genetics. Blood samples in FTA cards were also collected from 50 women to detect the mutation in a wide range of ages and assess its relationship to familial cancer susceptibility. This module enables students to use materials and methods that are routinely used by scientific researchers to analyze polymorphisms. Therefore, it can be used for laboratory exercises in traditional biochemistry curricula as well as in the growing field of genomic science and education.