期刊
GENETICS IN MEDICINE
卷 16, 期 7, 页码 539-546出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2013.188
关键词
carrier detection; cystic fibrosis; race specific; variants
Purpose: The aim of this study was to compare the mutation frequency distribution for a 32-mutation panel an a 69-mutation panel used for cystic fibrosis carrier screening. Further aims of the study were to examine the race-specific detection rates provided by both panels and to assess the performance of extended panels in large-scale, population-based cystic fibrosis carrier screening. Although genetic screening for the most common CFTR Mutations allows detection of nearly 90% of cystic fibrosis carriers, the large number of other mutations, and their distribution within different ethnic groups, limits the utility of general population screening. Methods: Patients referred for cystic fibrosis screening from January 2005 through December 2010 were tested using-either a 32-mutation panel (n = 1,601,308 individuals) or a 69-mutation panel (n = 109,830). Results: The carrier frequencies observed for the 69-mutation panel study population (1/36) and Caucasian (1/27) and African-American individuals (1/79) agree well with published,cystic fibrosis carrier frequencies; however, a higher carrier frequency was observed for Hispanic-American individuals (1/48) using the 69-mutation panel as compared with the 32-mutation panel (1/69). The 69-mutation panel detected similar to 20% more mutations than the 32-mutation panel for both African-American and Hispanic-American individuals. Conclusion: Expanded panels using race-specific variants can improve cystic fibrosis carrier detection rates within specific populations. However, it is important that the pathogenicity and the relative frequency of these variants are confirmed.
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