title: [Mutant thiopurine S-methyltransferase alleles among Jing Chinese in Guangxi province].
abstract: OBJECTIVE
  To investigate the mutant alleles of thiopurine S-methyltransferase (TPMT) among Jing Chinese.
  
  
  METHODS
  Polymerse chain reaction-single strand conformation polymorphism (PCR-SSCP) techniques were developed for assaying exons 5, 7 and 10 of the TPMT gene respectively and were used to detect mutant TPMT alleles among Jing Chinese.
  
  
  RESULTS
  Two cases of TPMT*3C (A719G) heterozygotes were identified in 103 Jing Chinese; other deleterious alleles such as TPMT*2 (G238C), TPMT*3A (G460A/A719G) and TPMT*3B (G460A) were not found; 27 cases of silent mutant allele TPMT*1S (T474C) were also identified (5 homozygotes and 22 heterozygotes).
  
  
  CONCLUSIONS
  The PCR-SSCP assay established and adopted in this study was sensitive and reliable, which could be used to detect mutant TPMT alleles. Allele frequency of TPMT*3C is low among Jing Chinese (1.0%), and TPMT*3C appears to be the most prevalent deleterious allele in this population.
authors.affiliation: Institute of Clinical Pharmacology, School of Pharmaceutical Sciences, Zhongshan Medical College, PR China.
authors.forename: Jian-ping
authors.initials: JP
authors.lastname: Zhang
authors.forename: Min
authors.initials: M
authors.lastname: Huang
authors.forename: Yong-yuan
authors.initials: YY
authors.lastname: Guan
authors.forename: An-long
authors.initials: AL
authors.lastname: Xu
authors.forename: Jue-heng
authors.initials: JH
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000483:Alleles; D044466:Asian People / Q000235:genetics; D002681:China; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008780:Methyltransferases / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D008780:Methyltransferases; C022745:thiopurine methyltransferase