A mutation located at the 5' splice junction sequence of intron 3 in the p67phox gene causes the lack of p67phox mRNA in a patient with chronic granulomatous disease.

摘要: Chronic granulomatous disease (CGD) is due to a functional defect of the O2(-)-generating NADPH oxidase neutrophils. Mutations resulting in CGD have been shown occur only four genes, thus identifying main components complex, namely two subunits membrane-bound cytochrome b and cytosolic factors activation 67 kD (p67phox) 47 (p47phox). The present study deals with biochemical genetic analysis patient suffering from p67phox-deficient form CGD. p67phox deficiency was ascertained by immunochemistry ability recombinant restore activity using cell-free system activation. cellular extracts proband contained no protein mRNA when assayed Western Northern blot analysis. However, reverse transcription subsequent cDNA amplification polymerase chain reaction specific primers showed that trace amounts deleted for exon 3 were synthesized immortalized B lymphocytes. Sequence genomic DNA T-to-C transition at position +2 intron 3. This point mutation consensus 5' splice site probably responsible lack accumulation also skipping detected few molecules escaped degradation.