The Spectrum of Variants in Nonwhite Cystic Fibrosis Patients

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.

Source: Journal of Molecular Diagnostics - December 18, 2015 Category: Pathology Authors: Iris Schrijver, Lynn Pique, Steve Graham, Michelle Pearl, Athena Cherry, Martin Kharrazi Tags: Regular article Source Type: research