Identification of mutation in a candidate gene for hereditary multiple exostoses type II

Lei Xu*, Hanxiang X. Deng, Jiahui H. Xia, Hejun J. Li, Jiangnan N. Zhou, Daping P. Wang, Qian Pan, Zhigao G. Long

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Objectives To identify possible mutations in our previously cloned candidate gene for hereditary multiple exostoses type II (EXT2) in affected members of EXT families so as to confirm that it is the disease-causing gene. Methods The mutation was detected first by single strand conformational polymorphism (SSCP) of all coding exons of the candidate gene and then by sequencing analysis. Results After analyzing 37 patients from 20 Chinese EXT families by SSCP and DNA sequencing analysis, one 2-bp insertion mutation was identified in this candidate gene in affected members of an EXT family. This mutation resulted in the frameshift and generated a truncated gene product consisting of 105 amino acids. Conclusions The identification of the mutation in the candidate gene indicates that this novel gene is responsible for EXT2 (one of the disease-causing gene of EXT).

Original languageEnglish (US)
Pages (from-to)72-75
Number of pages4
JournalChinese medical journal
Volume112
Issue number1
StatePublished - Jan 1 1999

Keywords

  • Hereditary multiple exostoses
  • Mutation
  • Positional cloning
  • Tumor suppressor gene

ASJC Scopus subject areas

  • Medicine(all)

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