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    Proc Natl Acad Sci U S A. 1991 Apr 1;88(7):2753-7.

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

    Casimir CM, Bu-Ghanim HN, Rodaway AR, Bentley DL, Rowe P, Segal AW.

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    Department of Medicine, Rayne Institute, University College London, United Kingdom.

    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.

    PMID:
    2011585
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC51317
    Free PMC Article

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