BIOM30002 Lecture Notes - Lecture 20: Genetic Screen, Malabsorption, Intron
Document Summary
20: apr 22 - molecular basis of cf. Discovery of the gene (cftr) involved in causing cf. Molecular basis of cf - the cftr protein and its structure. The infant that tastes of salt will surely die . Identified mucous plugs in pancreas in babies dying of malnutrition. Later, cf characterised by fat & protein malabsorption, failure to thrive, lung disease and abnormal electrolyte composition in sweat e. g. during heat wave babies presented to hospital dehydrated. 1983 - fundamental defect identified as abnormal camp mediated regulation of chloride transport (sweat ducts) 1985 - gene associated with cf mapped to chromosome 7q31. 2 by linkage in families. Isolate overlapping segments of dna and see if it is associated with disease. By repeating this process along the long arm of chr7 we can identify the gene involved. Coding region, 27 exons (nb old naming of exons in diagram below) In fact, now they are re-numbered again: 6b has become 7 etc.
