Mutant thiopurine S-methyltransferase alleles among Jing Chinese in Guangxi province.
- Author:
Jian-ping ZHANG
1
;
Min HUANG
;
Yong-yuan GUAN
;
An-long XU
;
Jue-heng WU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Alleles; Asian Continental Ancestry Group; genetics; China; Exons; genetics; Female; Gene Frequency; Genotype; Humans; Male; Methyltransferases; genetics; Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational
- From: Chinese Journal of Medical Genetics 2003;20(4):303-306
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the mutant alleles of thiopurine S-methyltransferase (TPMT) among Jing Chinese.
METHODSPolymerse 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.
RESULTSTwo 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).
CONCLUSIONThe 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.
