A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease.

摘要: We have previously reported a patient with cytochrome b-positive X-linked chronic granulomatous disease. Although the O2-production of neutrophils from was completely defective, we presented data suggesting that patient's b present at normal level and possibly had spectroscopic features. Thus, to look for mutation in heavy chain (gp91-phox) gene, DNA analysis gp91-phox cDNA derived this performed. As result, found five nucleotides (1521 through 1525) within exon 12 were deleted, new sequence eight inserted. This converted Gln507-Lys508-Thr509 into His-Ile-Trp-Ala. Mismatched polymerase reaction showed mother has both wild mutated alleles, confirming case transmitted an fashion. is different those by others. The translocation p47-phox p67-phox membrane fraction occurred, indicating complete formation nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. conclude suggests structure encoded on important electron transfer.