MCD BIO CM156 Lecture Notes - Lecture 7: Osteogenesis Imperfecta, Phenylalanine Hydroxylase, Genetic Screen
26 Jan 2020
School
Course
Professor
Document Summary
Midterm cutoff next wednesday and first 3 papers. Positional cloning: to identify the genetic cause of inherited disorders: understanding the basic biology underlying genetic disorders, providing the opportunity for diagnostic testing for families. Developing therapies based on the mechanism of disease. What positional cloning is not: identifying a mutated gene by a candidate gene approach. Ex: candidate gene: osteogenesis imperfecta brittle bone disease. Type i collagen the main structural protein of bone: identifying a mutated gene by an abnormality in a known pathway. Ex: defect of tyrosine to melamine leads to albinism. Positional cloning: identification of the mutation based on finding the chromosomal location (i. e. the position) of the gene in the genome. Disruption of gene at xp21 led to dmd so they believed it was on the x chromosome. Another study: single x chromosome deletion led to multiple disorders. Without it, disorganization of muscles and fatty acid infiltration. Different mutations in dmd gene cause different disease severity.
