Paper Key : IRJ************164
Author: G.suvarna
Date Published: 05 Jan 2025
Abstract
Cystic fibrosis autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) Here we summarize the basic descriptive level clinical and genetic characteristics of cystic fibrosis gene mutations while emphasizing differences between CF mutations found in Chinese pediatric CF patients compared to those found in Caucasian CF patients. In addition we describe animal models used to study human cystic fibrosis disease and highlight unique features of each model that mimic specific human Cl-associated signs and symptoms.CF is result in mutation in cystic fibrosis transmembrane conductance regulator (CFTR) The most common mutation in CF gene is (AF508) In AF508 mutation the A is deleted from three nucleotides result in loose of phenyl alaninc ammo acid at 508th location on protein. CF caused by mutation of (AF508) account two third of cases worldwide and difficulty in breathing and eventually severe lung infection. The most common signe is salty skin growth rate retardation and loss of weight however the food intake is normal accumulation of thick sticky mucous in chest region which is difficult control because of it's sticky in nature. Different diagnosis categories used in screening of CF such as sweat test or genetic testing and new born screening in borns measuring the level of immunoreactive trypsinogen is valuable in detecting CF Although there is no healing in CF patients many ways available for treatment