Mutant thiopurine S-methyltransferase alleles among Jing Chinese in Guangxi province / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the mutant alleles of thiopurine S-methyltransferase (TPMT) among Jing Chinese.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>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.</p>