Molecular cloning of EXT2 and EXT4 gene

H. Deng*, L. Xu, Q. Ruan, L. Huang, J. Xia

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Hereditary multiple exostose(EXT) is an autosomal dominant disorder of skeletal system. Three genetic loci have been identified at 8q24.1(EXT1), 11p11(EXT2) and 19p(EXT3) respectively. In this paper, EXT2 gene was cloned with positional cloning and homologous screening. SSCP and sequencing analysis have been done in 37 EXT patients who came from 20 EXT families, 2 mutations of insertion were tested in 2 patients. This confirmed that the gene cloned in this paper was EXT2 gene which locus at 11p11. Additionally EXT4 gene was cloned with homologous screening and located at 1p36.1 with FISH in this paper.

Original languageEnglish (US)
Pages (from-to)519-523
Number of pages5
JournalHunan yi ke da xue xue bao = Hunan yike daxue xuebao = Bulletin of Hunan Medical University
Volume23
Issue number6
StatePublished - 1998

ASJC Scopus subject areas

  • Medicine(all)

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