LMP299Y1 Lecture Notes - Lecture 21: Cystic Fibrosis, Southern Blot, Molecular Oncology
12 May 2015
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Lecture 21 molecular diagnostic. A universal discipline of laboratory medicine. Molecular diagnostic composed of many different fields. Molecular genetics classical application for molecular diagnostic: use molecular diagnostic to identify disease. Identity test: use molecular diagnostic to identify pt, used to identify parent relationship. If knew ahead of time, lower dose would be given and tragedy would not happen. Genetic defect single point mutation in - globulin gene (a t) Mutation destroys a restriction enzyme (restriction endonuclease) digestion site. Restriction fragment length polymorphism (rflp) One cutting site for the normal gene. 1. 2 kb upstream there is another cutting site. Downstream 0. 2 kb, another cutting site. That is the real genome sequence real genome. If this site is mutated, you cannot cut this fragment. Restriction enzyme digest this genome then use electrophoresis for southern blot, this is the pattern you"ll expect. For normal gene, you get smaller cut 1. 2 kb and another at 0. 2 kb (smaller fragments)
