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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。
OBJECTIVE: To understand the genetic polymorphism of ubiquinone transpeptidase 1A8 * 2 in the ethnic groups of Wa, Bai and Tibetan in Yunnan, and to understand the racial differences compared with other races. Methods: Udipoglucan D transferase 1A8 * 2 genotypes were genotyped by polymerase chain reaction - restriction fragment length polymorphism (PCR - RFLP) in 144 healthy individuals from 144 Wa, 115 Bai and 252 healthy Tibetan subjects. Calculate the ethnic genotype frequency, and test whether the Hardy-Weinberg equilibrium. Chi-square test was used to compare genotype frequencies and allele frequencies among Wa, Bai and Tibetan populations and other reported ethnic groups. Results: The frequencies of 1A8 * 2 gene in healthy population of Wa, Bai and Tibetans in Yunnan Province were compared with other races reported in the literature. The results showed that the frequencies of CC, CG and GG genotypes were 16.7 %, 52.8% and 30.5% respectively. The white people were 35.7%, 50.4% and 13.9% respectively, while the Tibetans were 8.3%, 78.2% and 13.5% respectively. The prevalence of the 1A8 * 2 G allele in the Wa, Bai and Tibetan uridine diphosphate glucanotransferases was 56.9%, 39.1% and 52.6%, respectively, which were significantly higher than those in African Americans and German Caucasians Compared with the Japanese, the mutation rate was higher but the mutation rate was lower than that of the Han nationality. The frequency of 1A8 * 2 G allele of Yunnan white uridine diphosphate glucanotransferase was significantly different from that of the Wa and Tibetan (P <0.01) There is no difference between the Wa and the Tibetan. All of the above genotype distribution ratios are in line with the Hardy-Weinberg equilibrium. CONCLUSION: The mutations of the ubiquitin diphosphate glucanotransferase 1A8 * 2 in the Wa, Bai and Tibetan ethnic groups in Yunnan Province all have their own characteristics. The detection of genotypes of these loci in clinical application of relevant drugs will help to guide the Clinical individualized medication.