Cystic fibrosis carrier screen

Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and, guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001 3 149-541... 

Gilbert R Cystic fibrosis carrier screening steps in the development of a mutation panel. Genet Testing 2001 5 223-7. 

Genetics. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001 3 149-54. 

Reed MR, Coty WA. eSensor a microarray technology based on electrochemical detection of nucleic acids and its application to cystic fibrosis carrier screening, in microarrays preparation, detection methods, data analysis, and applications. In Dill K, Liu R, Grodzinski P, editors. Kluwer Springer-Verlag 2008 in press. 

Henneman L, Bramsen I, Van Der Ploeg HM, Ten Kate LP. Preconception cystic fibrosis carrier couple screening impact, understanding, and satisfaction. Genet Testing 2002 3 195-202. 

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. 

Individuals with a family history of an autosomal or X-linked recessive disease may wish to know whether they are a heterozygous carrier of the disease. This can be established by genetic diagnosis (e.g., for cystic fibrosis, hemochromatosis, PKU, or albinism). In some specific cases, a population at high risk for a specific disease may be screened for carrier status using genetic diagnosis (e.g., Tay-Sachs disease in the Jewish population [see Clinical Correlate]). 

Cystic fibrosis is relatively common, being encountered in I/I6(X) Caucasian births. It is an autosomal recessive condition. Around one in twenty-two of the population arc carriers, making the dis-ca.se one of the most common serious genetic abnonnalities. The disease affects c. iK-rine secretions, and the onset of the disease may be at birth or later in child-h(KKi. Newborn screening has been largely unsuccessful, and traditional confirmation of the disea.se depended on the demonstration of an increased chloride concentration in a. sample of sweat. 

Chehab, F. F. and Wall, F. (1992) Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization a technology for carrier screening. Hum. Genetics 99, 163-168. 

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