LIFESCI 2G03 Lecture 3: L3 Cystic Fibrosis
23 Mar 2018
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Sarah and mike had siblings who died of cf. Other organs that make secreted fluids including sweat, mucus, digestive enzymes. Kidney, liver, pancreas, small intestine, reproductive tract, skin. With early diagnosis and early and continuous treatment, individuals live into their 20"s and 30"s - depending upon level of care, even 40"s or 50"s. Have to be careful in smokey and congested environments. Sarah and michael"s parents are cf/cf (cf represents recessive, dominant is represented by cf) We know for sure they are cf, we don"t know about the second allele. Note:the gene is now known as cftr and it codes for the cftr protein, but the shorter designation is useful. Counsellor collected dna samples from both sarah and mike. They are just looking at one gene, the cf gene. They are looking for the most common mutations to see if they are carriers. He is a carrier of the most common disease allele, delta-f508.
