Differences in expression of cystic fibrosis in blacks and whites
SA McColley, BJ Rosenstein… - American journal of …, 1991 - jamanetwork.com
• The recent identification of the cystic fibrosis (CF) gene confirms that genetic heterogeneity
occurs in CF. A three—basepair deletion in exon 10 resulting in a loss of the phenylalanine
residue at amino acid position 508 of the gene product, termed theCF conductance regulator
protein, accounts for 70% of cases of CF in white subjects. However, this gene defect occurs
in only 37% of affected blacks. Analysis of CF genes from American blacks has revealed a
number of mutations, most of which are unique to that population. We therefore searched for …
occurs in CF. A three—basepair deletion in exon 10 resulting in a loss of the phenylalanine
residue at amino acid position 508 of the gene product, termed theCF conductance regulator
protein, accounts for 70% of cases of CF in white subjects. However, this gene defect occurs
in only 37% of affected blacks. Analysis of CF genes from American blacks has revealed a
number of mutations, most of which are unique to that population. We therefore searched for …