Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
作者： Ruth A Heim , Elaine A Sugarman , Bernice A Allitto
DOI: 10.1097/00125817-200105000-00004
关键词:
摘要: Purpose: To determine the comparative frequency of 93 CFTR mutations in U.S. individuals with a clinical diagnosis cystic fibrosis (CF). Methods: A total 5,840 CF chromosomes from Caucasians, Ashkenazi Jews, Hispanics, African Americans, Native Asians, and mixed race were analyzed using pooled ASO hybridization strategy. Results: Sixty-four provided sensitivity 70% to 95% all ethnic groups except at least 81% when population was considered as whole. Conclusions: For population-based carrier screening for heterogeneous population, which is characterized by increasing admixture, pan-ethnic mutation panel 50 70 may provide practical test that maximizes sensitivity.
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