中国汉族人群TRAIL基因多态性的研究

Study on the TRAIL genetic polymorphism of Han nationality population Chinese

目的探讨中国汉族人群中TRAIL基因的分布情况及其在相关疾病发生中的作用。方法应用聚合酶链反应限制性片段长度多态性分析(PCR-RFLP)技术,对265例中国汉族人TRAIL基因第5外显子3′-非编码区1595位点(以mRNA为标准)进行检测,分析基因型频率和等位基因频率在不同性别人群中的分布。结果Hardy-Weinberg平衡吻合度检验显示,本组各等位基因频率期望值和观察值无显著差异,且其基因多态性分布无性别差异,与日本人相比无显著差异(P>0.05),等位基因频率与非洲及美洲高加索人相比均有显著差异(P(0.05)。结论PCR-RFLP方法检测TRAIL基因型特异性高,成熟、稳定;中国汉族人群TRAIL基因第5外显子3′-非编码区1595位点存在C/T突变。

Objective To investigate the polymorphism of tumor necrosis factor related apoptosis inducing ligand （TRAIL） gene in Chinese Hen nationality population. Methods The polymorphism of TRAIL gene in the 3′-untranslated region （3′-UTR）of exon 5 at position 1595 （based on the mRNA）was analyzed by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） methods in 265 Han individuals. The frequencies of genotypo and allele were ana- lyzed. Results No significant difference was found in the frequencies of TRAIL gene 1595 genotypes and alleles between male and female individuals in Chinese Han nationality （P 〉 0.05） ;No significant difference was found in the frequencies of TRAIL gene 1595 genotypes and alleles between Chinese Han and Japanese populations （ P 〉 0.05 ）. There were significant differences between Chinese population and African and American Caucasians populations （ P 〈 0.05 ）. Conclusion The PCR-RFLP is a stable and high specificity method to detect the TRAIL genotype. TRAIL（ 1595C/T） gene in exon 5 has polymorphism in Chinese Han populations.