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To screen for potential mutations in an ethnic Han Chinese family from Shanxi with hereditary multiple exostoses. Polymerase chain reaction and DNA sequencing were used to screen potential mutations in EXT1 and EXT2 genes. For EXT1 gene, two synonymous mutations (P477P and E587E), three intronic mutations (c.1537 -48A>G, c.1721 +203A>G and c.1722 -103C>G) were detected. For EXT2 gene, five intronic mutations (c.-29 -148A>T, c.1080 -18T>A, c.1336 -93C>T, c.1526 -166C>T, and c.1526 -195C>T) were identified. Among these, EXT1 P477P, EXT1 E587E and EXT2 c.1080 -18T>A are polymorphisms listed by Multiple Osteochondroma Mutation Database, whilst the other 7 sites have not been reported. No mutations have been found among all exons of the EXT1 and EXT2 genes in this family. Linkage analysis is necessary for identifying the cause of this disease.


Yong-an Zhou, Yun-xia Ma, Yong-hong Zhang, Zi-qi Hao, Xue-jing Li, Yi-yu Shi, Quan-bin Zhang, Peng-li Li. Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2013 Feb;30(1):95-8

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PMID: 23450490

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