BCH 4101 Lecture Notes - Lecture 8: Snp Genotyping, Haplotype, Reverse Genetics

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Identify a gene that confers a phenotype (even if very little is known about the phenotype) Have a phenotype (disease) identify the gene that is responsible. What do we have to do to find a disease-causing gene. Which tells us: how certain genes are inherited. Using this information we can calculate the recombination rate. Essentially: do our affected family members have certain markers compared to non affected family makers. Can we make a link between a disease- causing gene and a marker. Genetic linkage: estimate of physical distance on a chromsome between two genes. Obtain dna samples form member of affected families. Pedigree analysis (calculate lod scores) to determine the linkage between disease gene and mapped dna markers. Example: the case of familial breast cancer: Where individuals have breast cancer or ovarian cancer at a much younger age than the general population and it is thought to be linked to a specific gene mutations.

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