What kind of allele causes cystic fibrosis

Cystic fibrosis CF is caused by mutations in the CF transmembrane conductance regulator CFTR gene which encodes a protein expressed in the apical membrane of exocrine epithelial cells. This genotypic variation provides a rationale for phenotypic effects of the specific mutations. The extent to which various CFTR alleles contribute to clinical variation in CF is evaluated by genotype-phenotype studies.

These demonstrated that the degree of correlation between CFTR genotype and CF phenotype varies between its clinical components and is highest for the pancreatic status and lowest for pulmonary disease.

However, with the advent of genetic testing, use of the sweat test has diminished. Health professionals conduct newborn screening for CF by taking a blood sample at birth, and sometimes taking a second blood sample several weeks later. All US states test newborns for CF. Prenatal screening may also be performed as a precautionary measure when there is a known family history of the disease.

Early screening allows people to live longer and improves their quality of life because it allows for earlier awareness and medical intervention. Prior to the s, individuals with CF rarely lived to attend elementary school. New advances in medicine now allow longer and higher quality lives for those with the disease and many with cystic fibrosis are currently living into their 30s and 40s. Cystic Fibrosis By: Kristina Winikates. Keywords: Genetics , Diseases.

Cystic Fibrosis Cystic fibrosis CF is a fatal, inherited disease found in humans and characterized by buildup of thick, sticky mucus, particularly in the respiratory and digestive tracts. American College of Obstetricians and Gynecologists. Cystic Fibrosis: Prenatal Screening and Diagnosis. American College of Obstetricians and Gynecologists, Accessed February 2, Bush, Andrew, Eric W. Alton, Jane C. Davies, Uta Griesenbach, and Adam Jaffe, eds. This mucus can obstruct the airways and glands, resulting in the symptoms of cystic fibrosis.

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