Cystic fibrosis gene mutation

Cystic fibrosis (CF) is the most common potentially lethal autosomal recessive disease among Caucasians. The incidence is estimated to be approximately 1 in 2000 births (Bl). Since it is inherited as an autosomal recessive condition, screening to identify couples at risk has been suggested. However, CF screening is complicated because many mutations of the CF gene exist. Thus, the feasibility of screening a population for carriers of cystic fibrosis gene mutations is primarily dependent upon the frequency of the common mutation in that population. 

A somewhat more complex approach is necessary to sense clusters of mutations. In this tiling, eight additional sets of four features are added that interrogate for mutations directly adjacent to, and one base away from, the center of the frame. These additional sets assume either wild type or one specific mutation at the frame center. This strategy has been applied to the detection of cystic fibrosis gene mutations [13]. 

Noone PG, Zhou Z, Silverman LM, Jowell PS, Knowles MR, Cohn JA (2001) Cystic fibrosis gene mutations and pancreatitis risk relation to epithelial ion transport and trypsin inhibitor gene mutations. Gastroenterology 121 1310-9... 

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been described in ABPA patients without clinical evidence of cystic fibrosis. Gene mutations may play an etiologic role in a subset of the patients with ABPA (72). 

Does anyone actually use nanowires Well, Dr. Ock in Spiderman 2 claimed to use nanowires to connect his neural circuitry to a machine circuit. In fact, silicon nanowires have recently been used to build sensors for DNA. The sensors are designed to detect the presence of mutations in a cystic fibrosis gene. Nano Letters 2004, 4, 51 -54]... 

Cystic Fibrosis Gene Genetic Analysis Consortium (2001) Hum Mutations 4 167... 

Chfllon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995 332 1475-80. 

Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 1996 331 974-80. 

Truninger K, Malik N, Ammann RW, MueUhaupt B, Seifert B, Muller HJ, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. 

The cystic fibrosis transmembrane conductance regulator (CFTR) was named for its role in cystic fibrosis. A mutation in the gene encoding its transmembrane subunits results in dried mucus accumulation in the airways and pancreatic ducts. 

L. Y. Ch ang, K. Tang, et al.. Detection of F508 mutation of the cystic fibrosis gene by matrix-assisted laser desorption/ionization mass spectrometry. Rapid Commun. Mass Spectrom. 9, 772-774 (1995). 

Osborne, L., Knight, R. Santis, G., and Hodson, M (1991) A mutation m the second nucleotide binding fold of the cystic fibrosis gene. Am J. Hum. Genet. 48,608-612. 

The primary structure refers to the amino acid sequence of the polypeptide chain. An error caused by a single incorrect amino acid amongst a chain of 1480 amino acids can seriously affect the function of the protein. This happens in people with cystic fibrosis who have a defective CFTR (cystic fibrosis transmembrane conductance regulator) gene, which produces a defective chloride transporter protein. In 70% of people with cystic fibrosis, the mutation is deletion of 3 base pairs in the DNA, which results in the loss of phenylalanine... 

Periotto, G., Lucci, M., Bianchi, N., Mischiati, C., 1999. Detection of the deltaF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology. Hum. Mutat. 13, 390-400. 

Cystic Fibrosis Is Due to Mutations in the Gene Encoding a Chloride Channel... 

Cystic fibrosis (MIM 219700) Mutations in the gene encoding the CFTR protein, a Cl" transporter... 

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR), a chloride (CF) channel characterised by chloride permeability and secretion, and also by the regulation of other epithelial ion channels (Eidelman et al, 2001). Mutations in the CFTR gene lead to an impaired or absent Cl conductance in the epithelial apical membrane, which leads to defective Cl secretion and absorption across the epithelium. Genistein (Illek et al, 1995 Weinreich et al, 1997) and other flavonoids (Illek and Fisher, 1998) have been shown, in different animal and tissue models, to activate wild-type CFTR and CFTR mutants by (Eidelman et al, 2001 Roomans, 2001 Suaud et al, 2002) ... 

Some 70 per cent of all cystic fibrosis patients exhibit a specific three-base-pair deletion in the gene, which results in the loss of a single amino acid (phenylalanine 508) from its final polypeptide product. Other cystic fibrosis patients display various other mutations in the same gene. 

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