%0 Journal Article
%T The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing
%A Athena Cherry
%A Iris Schrijver
%A Lynn Pique
%A Martin Kharrazi
%A Michelle Pearl
%A Steve Graham
%J The Journal of Molecular Diagnostics
%D 2016
%R 10.1016/j.jmoldx.2015.07.005
%X Despite the implementation of cystic fibrosis (CF) newborn screening programs across
the United States, the identification of CFTR gene variants in nonwhite populations
compared with whites remains suboptimal. Our objective was to establish the spectrum
of CFTR variants and their frequencies in CF patients in the United States with African,
Native American, Asian, East Indian, or Middle Eastern backgrounds. By using direct
DNA sequencing, we identified two CFTR variants in 89 of 140 affected nonwhite individuals
with uncharacterized genotypes.
%U https://jmd.amjpathol.org/article/S1525-1578(15)00217-2/fulltext