尿苷二磷酸葡聚糖转移酶1A8*2在云南健康佤族、白族和藏族基因多态性研究

目的:了解云南佤族、白族和藏族人群中尿苷二磷酸葡聚糖转移酶1A8*2的基因多态性,并与其他种族比较,了解种族差异。方法:使用聚合酶链反应-限制性片段长度多态性的方法对云南144名佤族、115名白族和252名藏族健康个体进行尿苷二磷酸葡聚糖转移酶1A8*2基因分型。计算各民族基因型频率,并检验是否符合Hardy-Weinberg平衡。用χ2检验比较佤族、白族和藏族人群以及已报道的其他民族的基因型频率和等位基因频率。结果:云南佤、白、藏三族健康人群尿苷二磷酸葡聚糖转移酶1A8*2基因频率与文献报道的其他种族比较结果表明,佤族健康人群CC、CG、GG基因型频率分别为16.7%、52.8%和30.5%,白族分别为35.7%、50.4%和13.9%,藏族的分别为8.3%、78.2%和13.5%。佤族、白族和藏族尿苷二磷酸葡聚糖转移酶1A8*2 G等位基因频率分别为56.9%、39.1%和52.6%,与非洲裔美国人及德国高加索人比较其突变率明显增高;白族与日本人比较突变率增高,但突变率低于汉族;云南白族尿苷二磷酸葡聚糖转移酶1A8*2 G等位基因频率与佤族和藏族均有统计学差异(P<0.01),但佤族和藏族之间无差异。上述所有基因型分布比例都符合Hardy-Weinberg平衡。结论:云南佤族、白族和藏族尿苷二磷酸葡聚糖转移酶1A8*2的突变发生情况均有自己的特点,在临床应用相关药物时,进行这些位点基因型检测,将有助于指导临床个体化用药。

Genetic polymorphism of UDP-glucan transferase 1A8*2 in Yunnan province healthy Wa,Bai and Tibetan nationalities

OBJECTIVE To investigate the allele and genotype frequencies of UDP-glucan transferase 1A8*2 in Yunnan province healthy Wa,Bai and Tibetan nationalities,and compare with other ethnics.METHODS The number of the healthy volunteers from Yunnan province Wa,Bai and Tibetan nationalities were 144,115 and 252,respectively.The PCR-RFLP method,which was verified by direct sequencing,was applied to genotype UDP-glucan transferase 1A8*2.Then the genotypes frequencies of the nationalities were calculated to test whether in Hardy-Weinberg equilibrium or not.The genotypes and alleles frequencies between Yunnan province Wa,Bai and Tibetan nationalities and other ethnic groups were compared by Pearson’s Chi-Square test.RESULTS The frequencies of CC,CG and GG genotypes were 16.7%,52.8%,30.5%and 35.7%,50.4%,13.9%and8.3%,78.2%,13.5%,respectively,in Yunnan province Wa,Bai and Tibetan population.Moreover,The frequencies of allele G in Yunnan province Wa,Bai and Tibetan were 56.9%,39.1% and 52.6%,that were higher than African-Americans and German Caucasions.Furthermore,the mutation rate of Yunnan province Bai was higher than Japanese and lower than Chinese Han nationality.There were significant differences between Yunnan province Bai and Wa or Tibetan nationality about the frequencies of allele G(P<0.01),but no difference between Yunnan province Wa and Tibetan nationality.Above all genotypes distribution all met Hardy-Weinberg equilibrium.CONCLUSION The UDP-glucan transferase 1A8*2 gene distribution in Yunnan nationality Wa,Bai and Tibetan nationality mutation occurred in the situation has its own characteristics,Genotyping of UDP-glucan transferase 1A8*2 will be helpful in guiding rational and individualized medication for individuals from Yunnan province Wa,Bai and Tibetan nationality using drugs that are substrates of UGT.