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

Casimir, Colin M. and Bu-Ghanim, Hanan N. and Rodaway, Adam R and Bentley, David L. and Rowe, Peter and Segal, Anthony W. (1991) Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. Proceedings of the National Academy of Sciences of the United States of America , 88 (7). pp. 2753-2757. ISSN 0027-8424

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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.

Item Type:Article
Research Areas:School of Science and Technology > Natural Sciences
Citations on ISI Web of Science:75
ID Code:3300
Deposited On:02 Dec 2009 09:30
Last Modified:13 Jan 2014 08:46

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