• Elizabeth M Rohlfs, Zhaoqing Zhou, Ruth A Heim, Narasimhan Nagan, Lynne S Rosenblum, Kerry Flynn, Thomas Scholl, Viatcheslav R Akmaev, D Alexa Sirko-Osadsa, Bernice A Allitto, and Elaine A Sugarman.
• Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, MA 01581, USA. Elizabeth.rohlfs@genzymegenetics.com
• Clin. Chem. 2011 Jun 1; 57 (6): 841-8.

BackgroundThe incidence of cystic fibrosis (CF) and the frequency of specific disease-causing mutations vary among populations. Affected individuals experience a range of serious clinical consequences, notably lung and pancreatic disease, which are only partially dependent on genotype.MethodsAn allele-specific primer-extension reaction, liquid-phase hybridization to a bead array, and subsequent fluorescence detection were used in testing for carriers of 98 CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] mutations among 364 890 referred individuals with no family history of CF.ResultsOne in 38 individuals carried one of the 98 CFTR mutations included in this panel. Of the 87 different mutations detected, 18 were limited to a single ethnic group. African American, Hispanic, and Asian individuals accounted for 33% of the individuals tested. The mutation frequency distribution of Caucasians was significantly different from that of each of these ethnic groups (P < 1 × 10⁻¹⁰).ConclusionsCarrier testing using a broad mutation panel detects differences in the distribution of mutations among ethnic groups in the US.

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