IDENTIFICATION OF A DOUBLE MUTATION (D160V-K161E) IN THE P67PHOX GENEOF A CHRONIC GRANULOMATOUS-DISEASE PATIENT

In neutrophils of a chronic granulomatous disease (CGD) patient with a lack of p67phox the mRNA for p67phox was present in normal amount and size. This mRNA was reverse transcribed, and the coding region was an alyzed by single-strand conformation polymorphism analysis, Direct DNA sequencing allowed the identification of a A(479)-to-T and A(481)-to- G substitution in exon 5 of the p67phox gene resulting in a double non conservative amino acid change (160)Lys-to-Glu and (161)Asp-to-Val (D1 60V-K161E), This defect was found in the genomic DNA of this patient i n heterozygous state and does not correspond to those previously found in other cases of CGD lacking the p67phox. (C) 1997 Academic Press.