新疆维吾尔族人群SLC22A2中rs316019位点基因多态性分布研究

中国临床药理学与治疗学 ›› 2017, Vol. 22 ›› Issue (3): 287-293.

新疆维吾尔族人群SLC22A2中rs316019位点基因多态性分布研究

周源¹，卢雪玲²，赵军³，张莉¹，杨欢杰⁴，王宁¹

¹新疆医科大学第一附属医院干部病房内一科， ²新疆医科大学第二附属医院内分泌科， ³新疆医科大学第一附属医院药学部， ⁴新疆医科大学药学院，乌鲁木齐 830011，新疆

收稿日期:2016-12-08 修回日期:2017-02-15 出版日期:2017-03-26 发布日期:2017-03-29
通讯作者: 王宁，女，副教授，硕士生导师，研究方向：糖尿病代谢与疾病。 Tel:13999994126 E-mail:13999994126@163.com
作者简介:周源，女，硕士研究生，研究方向：内分泌学。 Tel:15099614565 E-mail:656083140@qq.com
基金资助:
国家自然科学基金(81360510)

Polymorphism distribution of rs316019 of SLC22A2 in the Uygur population of Xinjiang

ZHOU Yuan¹, LU Xueling ², ZHAO Jun ³, ZHANG Li ¹, YANG Huanjie⁴，WANG Ning¹

¹Department of the No.1 Cadre Wards Medicine, the First Affiliated Hospital of Xinjiang Medical University, ² Department of Endocrinology, the Second Affiliated Hospital of Xinjiang Medical University,³ Department of Pharmacy, the First Affiliated Hospital of Xinjiang Medical University, ⁴ Institute of Pharmacy of Xinjiang Medical University, Urumqi 830011, Xinjiang, China

Received:2016-12-08 Revised:2017-02-15 Online:2017-03-26 Published:2017-03-29

摘要/Abstract

摘要：

目的:研究新疆维吾尔族人群SLC22A2中rs316019位点(G808T,A270S)基因多态性分布，并比较其与不同种族间的分布差异。方法:用SNaPshot SNP分型技术对276名健康维吾尔族男性志愿者进行SLC22A2的rs316019位点基因分型测定，并与NCBI基因库中以及相关文献报道的不同种族关于该位点的分型数据进行比较，分析其分布的种族差异性。结果:rs316019位点基因多态性符合Hardy-Weinberg平衡(P>0.05)，其CC、CA、AA基因型频率分别为79.7%、18.1%、2.2%，最小等位基因A的频率为11.2%，未见等位基因G、T的分布。其基因多态性频率分布与汉族、非洲、欧美等人群均存在明显差异（P＜0.05)。结论:新疆维吾尔族人群SLC22A2中rs316019位点基因多态性分布在不同人群中存在差异，这将对应药物遗传药理学与相关疾病的发生发展等的相应差异。

关键词: SLC22A2基因, rs316019位点, 基因多态性, 维吾尔族

Abstract:

AIM: To study the polymorphism distribution of SLC22A2 gene rs316019 loci in Uygur of Xinjiang, and to analyze the racial differences in different populations. METHODS: The genotypes of rs316019 loci(G808T,A270S)in 276 unrelated healthy Uygur male were detected by the techniques of SNaP shot, and the genotype and allele frequency were subsequently compared with different populations, and analyzed the racial differences in their distribution. RESULTS:The genotypes distribution of rs316019 loci was in the Hardy-Weinberg equilibrium (P>0.05). The frequencies of genotypes (CC, CA, and AA) were 79.7%,18.1% and 2.2% in Xinjiang Uygur, the frequency of minor allele A was 11.2%, the allele G or T were not observed. It's polymorphism distribution showed significant differences between Xinjiang Uygur and the Han, the African, the American and European populations etc. (P＜0.05). CONCLUSION: There was national difference in polymorphism of SLC22A2 rs316019 loci among different populations, and it may bring the difference to drugs' pharmacogenetics and related diseases' development etc. accordingly.

Key words: SLC22A2 gene, rs316019 loci, genetic polymorphism, Uygur

中图分类号:

R968

周源，卢雪玲，赵军，张莉，杨欢杰，王宁. 新疆维吾尔族人群SLC22A2中rs316019位点基因多态性分布研究[J]. 中国临床药理学与治疗学, 2017, 22(3): 287-293.

ZHOU Yuan, LU Xueling, ZHAO Jun, ZHANG Li, YANG Huanjie，WANG Ning. Polymorphism distribution of rs316019 of SLC22A2 in the Uygur population of Xinjiang[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2017, 22(3): 287-293.

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