Am J Hum Genet. 1992 Aug;51(2):316-22.

Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

Clarke JT, Wilson PJ, Morris CP, Hopwood JJ, Richards RI, Sutherland GR, Ray PN.

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Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada.

Abstract

We report the results of studies on the characterization of the mutation associated with marked unbalanced expression of the mutant X chromosome in a karyotypically normal girl with Hunter disease (mucopolysaccharidosis type II). Southern analysis of DNA extracted from somatic cell hybrids containing only the mutant X chromosome showed deletion of the Xq27.3-q28 loci: DXS297 (VK23AC), DXS293 (VK16), FRAXA (pfxa3), DXS296 (VK21A), and the 3' end of the iduronatesulfatase (IDS) gene. The flanking loci--DXS52 (St14-1), DXS304 (U6.2), and DXS369 (RN1)--were intact. On the basis of these results, we concluded that the mutation was a simple deletion extending a maximum of 3-5 cM to the centromeric side of the IDS gene. Both Southern analysis of DNA from somatic cell hybrids, using short segments of IDS cDNA, and PCR of reverse-transcribed RNA from cultured skin fibroblasts indicated that the telomeric terminus of the deletion was localized to a region near the middle of the coding sequences of the gene.

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Am J Hum Genet. 1993 Feb;52(2):431-4.

PMID:: 1642233; [PubMed - indexed for MEDLINE]
PMCID:: PMC1682679

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Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

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