Please enable JavaScript.
Coggle requires JavaScript to display documents.
GENETICS CASE STUDY - Coggle Diagram
GENETICS CASE STUDY
CYSTIC FIBROSIS
The most common autosomal recessive disease. 1938, 1989 CFTR gene identifies.
2003: first draft of genome
earlier incorrect PON gene, thought responsible
-
symptoms= lungs, ,pancreas, GI tract, reproductive system.
40-50 years, however most people live a normal long life.
normal physiology: Cl - exits the cell, NA+ regulated. water balanced is maintained.
CF physiology: Cl- is retained in the cell, therefore NA+ accumulates. water enters, mucous thick and dehydrated.
treatment: lung transplant, only lung functioning improved.
-
-
-