BIOL 102 Lecture Notes - Genetic Disorder, Haemophilia A, Genetic Testing
20 Nov 2012
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Document Summary
Predates the identification of dna as the genetic material. Has been a useful way to think about disease pathways. Many of the disease will be monogenic. 53/1000 people will have been hospitalized by age 25 because of a genetically determined illness. Relationship between genotype and phenotype is solid. Increasingly, clinical genetic testing is used to predict what will happen will there be disease, under which circumstances, will the disease respond to therapy. Breast cancer one of the genes that has been identified is brca1. Mutations in brca1 are known to be associated with increased risk of breast and ovarian cancer. Very high risk of developing breast (~80%) and/or ovarian (~40%) cancer by age 7. Internationally known categories silent mutations (cat 5 known polymorphism), known mutation (cat 1 known pathogenic [established mutants]) Cat 2 (likely pathogenic novel truncation), cat (no clue novel or uncharacterized), cat 4 (unlikely pathogenic novel silent)
