The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome

Giuseppe Palmieri, Valeria Capra, Giovanna Romano, Michele D'Urso, Sandra Johnson, David Schlessinger, Phillip Morris, John Hopwood, Paola Di Natale, Rosanna Gatti, Andrea Ballabio

Research output: Contribution to journalArticle

Abstract

A recently isolated cDNA clone from the iduronate sulfatase (IDS) gene has been used both to seed a contig of overlapping yeast artificial chromosomes (YACs) and to investigate the molecular defect in patients with Hunter syndrome (MPS II). Six YAC clones were found to span the IDS gene, and those and 14 other YACs were assembled into a 1.2-Mb contig around the gene in Xq27-q28. The physical map of the region identifies several putative CpG islands, suggesting the presence of other genes in the vicinity. DNA from a patient with a translocation breakpoint in the gene also permitted the orientation of the contig in the chromosome. Southern analysis of DNA from 25 unrelated Italian Hunter syndrome patients revealed 4 with deletions or rearrangements in the IDS gene.

Original languageEnglish
Pages (from-to)52-57
Number of pages6
JournalGenomics
Volume12
Issue number1
DOIs
Publication statusPublished - 1992

ASJC Scopus subject areas

  • Genetics

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    Palmieri, G., Capra, V., Romano, G., D'Urso, M., Johnson, S., Schlessinger, D., Morris, P., Hopwood, J., Di Natale, P., Gatti, R., & Ballabio, A. (1992). The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome. Genomics, 12(1), 52-57. https://doi.org/10.1016/0888-7543(92)90405-H