解剖学报

解剖学报 ›› 2021, Vol. 52 ›› Issue (4): 647-651.doi: 10.16098/j.issn.0529-1356.2021.04.022

• 人类学 • 上一篇    下一篇

广西汉族人群中缺氧诱导因子3A基因 rs11672731和rs2072491的多态性

谷嬉嬉 曾志能 何永玲 石祥 韦叶生*   

  1. 桂林医学院附属医院检验科，广西 桂林 541001
  • 收稿日期:2020-09-17 修回日期:2020-11-04 出版日期:2021-08-06 发布日期:2021-08-06
  • 通讯作者: 韦叶生 E-mail:yeshengwei56@163.com
  • 基金资助:
    国家自然科学基金资助项目;广西自然科学基金资助项目;广西重点研发课题

Distribution of hypoxia inducible factor 3A gene rs11672731 and rs2072491 single nucleotide polymorphisms in Guangxi Han population

GU Xi-xi  ZENG Zhi-neng  HE Yong-ling  SHI Xiang  WEI Ye-sheng*   

  1. Department of Clinical Laboratory, Affiliated Hospital of Guilin Medical University, Guangxi Guilin 541001, China
  • Received:2020-09-17 Revised:2020-11-04 Online:2021-08-06 Published:2021-08-06
  • Contact: WEI Ye-sheng E-mail:yeshengwei56@163.com

PDF

摘要：

目的  探讨缺氧诱导因子3A（HIF3A）在广西汉族人群中的分布特征，并比较它们与不同人群的分布差异。   方法  我们对纳入本研究的286例广西人rs11672731和rs2072491位点采用单核苷酸多态性分型检测（SNPscan）技术进行基因分型检测，统计学分析基因型和等位基因频率与人类基因组单体型图(HapMap)公布的HapMap-CEU、HapMap-HCB、HapMap-JPT、HapMap-GIH和HapMap-MEX数据间的差异。   结果  rs11672731位点存在AA、AG和GG 3种基因型，频率分布分别为42.7%、45.5%和11.8%，A、G的等位基因频率分别为65.5%和34.5%；rs2072491位点存在CC、CT和TT 3种基因型，其分布频率分别为47.6%、43.0%和9.4%，C、T的等位基因频率分别为69.1%和30.9%。两个位点的基因型和等位基因频率与男女性别无关，差异均无统计学意义（P>0.05）。与来自HapMap的CEU、HCB、JPT、GIH、TSI和MEX人群的基因分型资料比较，广西汉族人群基因型和等位基因频率与HCB和JPT数据比较差异均无统计学意义（P>0.05）；与HapMap公布的CEU、GIH、TSI和MEX人群数据相比，两位点的基因型和等位基因型频率与上述地区差异均有统计学意义（P<0.05）。   结论 广西人群 HIF3A 基因rs11672731和rs2072491存在多态性，且在不同人群间存在不同程度差异。

关键词: 广西, 缺氧诱导因子3A, 多态性, 单核苷酸多态性分型检测技术, 汉族人群

Abstract:

Objective  To study the distribution of hypoxia inducible factor（HIF）3A gene single nucleotide polymorphisms (SNPs) in Guangxi Han population and compare their distribution differences with different populations.    Methods  We conducted SNPscan technique to detect the genotypes of rs11672731 and rs2072491 on 286 Guangxi Han population included in the study and statistically analyzed the genotype and allele frequency and the HapMap-CEU, HapMap-HCB, HapMap-JPT, HapMap-GIH and HapMap-MEX data differences.    Results Three genotypes, AA, AG and GG, were found in rs11672731 of HIF3A,with frequency of 42.7%, 45.5% and 11.8%, respectively, the allele frequencies of A and G were 65.5% and 34.5%, respectively. Three genotypes of CC, CT and TT, were found for rs2072491 with frequency distributions of 47.6%, 43.0% and 9.4%, respectively, the allele frequencies of C and T were 69.1% and 30.9%, respectively. There was no significant differences in genotype and allele frequencies of rs11672731 and rs2072491 between different genders in Guangxi Han population (P>0.05). However, compared with the typing data of CEU, HCB, JPT, GHI, TSI and MEX from human genome project (HapMap), the genotype and allele frequencies of rs11672731 and rs2072491 were not significantly different from those of HCB and JPT (P>0.05). The genotype and allele frequencies of rs11672731 and rs2072491 were statistically different with the date of CEU, GIH, TSI and MEX published by the HapMap (P<0.05).    Conclusion  The polymorphisms of HIF3A gene rs11672731 and rs2072491 have differences on different populations.

Key words: Guangxi, Hypoxia inducible factor 3A, Polymorphism, Single nucleotide polymorphisms scan technique, Han population

中图分类号: