title: [Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses].
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors: Department of Central Laboratory, Taiyuan Central Hospital, Taiyuan, Shanxi, People's Republic of China. zya655903@163.com
authors: Yong-an
authors: YA
authors: Zhou
authors: Yun-xia
authors: YX
authors: Ma
authors: Yong-hong
authors: YH
authors: Zhang
authors: Zi-qi
authors: ZQ
authors: Hao
authors: Xue-jing
authors: XJ
authors: Li
authors: Yi-yu
authors: YY
authors: Shi
authors: Quan-bin
authors: QB
authors: Zhang
authors: Peng-li
authors: PL
authors: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D005091:Exons; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D055815:Young Adult; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2