[Mutant thiopurine S-methyltransferase alleles among Jing Chinese in Guangxi province].
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.
Zhang
Jian-ping
JP
Institute of Clinical Pharmacology, School of Pharmaceutical Sciences, Zhongshan Medical College, PR China.
Huang
Min
M
Guan
Yong-yuan
YY
Xu
An-long
AL
Wu
Jue-heng
JH
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
D008780:Methyltransferases; C022745:thiopurine methyltransferase