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[Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple
Yong-an Zhou1, Yun-xia Ma, Yong-hong Zhang
1Department of Central Laboratory, Taiyuan Central Hospital, Taiyuan, Shanxi, People's Republic of China. zya655903@163.com
Objective:
To screen for potential mutations in an ethnic Han Chinese family from Shanxi with hereditary multiple exostoses.
Methods:
Polymerase chain reaction and DNA sequencing were used to screen potential mutations in EXT1 and EXT2 genes.
Results:
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.
Conclusion:
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.
