Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
OBJECTIVE
To determine the comparative frequency of 93 CFTR mutations in U.S. individuals with a clinical diagnosis of cystic fibrosis (CF).


METHODS
A total of 5,840 CF chromosomes from Caucasians, Ashkenazi Jews, Hispanics, African Americans, Native Americans, Asians, and individuals of mixed race were analyzed using a pooled ASO hybridization strategy.


RESULTS
Sixty-four mutations provided a sensitivity of 70% to 95% in all ethnic groups except Asians, and at least 81% when the U.S. population was considered as a whole.


CONCLUSIONS
For population-based carrier screening for CF in the heterogeneous U.S. population, which is characterized by increasing admixture, a pan-ethnic mutation panel of 50 to 70 CFTR mutations may provide a practical test that maximizes sensitivity.
Heim
R A
RA
Molecular Diagnostic Laboratory, Genzyme Genetics, Framingham, Massachusetts 01701-9322, USA.
Sugarman
E A
EA
Allitto
B A
BA
D044466:Asian People; D044383:Black People; D002875:Chromosomes; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005828:Genetics, Population; D006801:Humans; D009154:Mutation; D012680:Sensitivity and Specificity; D014481:United States; D044465:White People; D001741:Black or African American
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator