Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat - PubMed (original) (raw)

Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat

C M Casimir et al. Proc Natl Acad Sci U S A. 1991.

Abstract

Chronic granulomatous disease (CGD) is a rare inherited condition rendering neutrophils incapable of killing invading pathogens. This condition is due to the failure of a multicomponent microbicidal oxidase that normally yields a low-midpoint-potential b cytochrome (cytochrome b245). Although defects in the X chromosome-linked cytochrome account for the majority of CGD patients, as many as 30% of CGD cases are due to an autosomal recessive disease. Of these, greater than 90% have been shown to be defective in the synthesis of a 47-kDa cytosolic component of the oxidase. We demonstrate here in three unrelated cases of autosomal recessive CGD that the identical underlying molecular lesion is a dinucleotide deletion at a GTGT tandem repeat, corresponding to the acceptor site of the first intron-exon junction. Slippage of the DNA duplex at this site may contribute to the high frequency of defects in this gene.

PubMed Disclaimer

Similar articles

Cited by

References

    1. Nature. 1985 Aug 8-14;316(6028):547-9 - PubMed
    1. Can J Genet Cytol. 1986 Aug;28(4):483-96 - PubMed
    1. Mol Cell Biol. 1986 Oct;6(10):3481-9 - PubMed
    1. Nature. 1987 Jun 25-Jul 1;327(6124):720-1 - PubMed
    1. J Biol Chem. 1988 Mar 25;263(9):4328-32 - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources