解剖学报

解剖学报 ›› 2018, Vol. 49 ›› Issue (6): 793-797.doi: 10.16098/j.issn.0529-1356.2018.06.016

• 人类学 • 上一篇    下一篇

网状蛋白4基因rs2588519 T/C和rs7582359 A/G多态性在广西人群中的分布

秦海媚1 王荣2 杨凤莲3 韦贵将1 罗桂飞1 王俊利1*   

  1. 1.右江民族医学院附属医院生殖遗传室； 2.右江民族医学院附属医院检验科； 3.右江民族医学院药学院，广西 百色 533000
  • 收稿日期:2017-05-23 修回日期:2017-11-01 出版日期:2018-12-06 发布日期:2019-02-28
  • 通讯作者: 王俊利 E-mail:13907768146@163.com
  • 基金资助:
    Nogo蛋白家族基因SNPs及拷贝数变异与鼻咽癌的分子机制

Distribution of rs2588519 T/C and rs7582359 A/G polymorphisms of reticulon 4 gene in Guangxi population

QIN Hai-mei1 WANG Rong2 YANG Feng-lian3 WEI Gui-jiang1 LUO Gui-fei1 WANG Jun-li 1*   

  1. 1.Laboratory of Reproductive Genetic; 2.Department of Laboratory Medicine, Affiliated Hospital of Youjiang Medical University for Nationalities; 3. Department of Pharmacy, Youjiang Medical University for Nationalities, Guangxi Baise 533000, China
  • Received:2017-05-23 Revised:2017-11-01 Online:2018-12-06 Published:2019-02-28
  • Contact: WANG Jun-li E-mail:13907768146@163.com

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摘要：

目的 研究广西人群中网状蛋白4（RTN4）基因rs2588519 T/C及rs7582359 A/G位点多态性的分布特征，对比分析不同种族间这两个位点基因型及等位基因频率的分布差异。 方法 运用多重单碱基延伸技术和DNA测序方法检测323例广西健康体检者的RTN4基因rs2588519 T/C及rs7582359 A/G位点基因型，分析其基因型及等位基因频率的分布，并对比HapMap（国际人类基因组单体型图计划）公布的欧洲人、日本人、非洲人和北京人的多态性数据。 结果 在广西人群中，RTN4基因rs2588519 T/C位点存在CC(53.0%)、TC(38.7%)、TT(8.3%) 3种基因型；rs7582359 A/G位点存在AA(7.4%)、AG(37.5%)、GG(55.1%) 3种基因型，这两位点的基因型及等位基因频率在男女间差异无统计学意义(P>0.05)。rs2588519 T/C位点基因型与非洲人群比较差异具有统计学意义(P<0.05)，其等位基因则与欧洲人、日本人和非洲人差异具有统计学意义(P<0.05)；rs7582359 A/G位点基因型及等位基因与欧洲人、非洲人比较差异均有统计学意义(P<0.05)。 结论 RTN4基因rs2588519 T/C及rs7582359 A/G位点多态性分布存在不同程度的种族差异。

关键词: 网状蛋白4, 基因多态性, 种群, 多重单碱基延伸技术, DNA测序法, 人

Abstract:

Objective To study the distribution of rs2588519 T/C and rs7582359 A/G polymorphisms of reticulon 4 （RTN4）gene in population of Guangxi, and to analyze the differences of genotype and allele frequencies among different people. Methods The genotypes of rs2588519 T/C and rs7582359 A/G in 323 Guangxi healthy subjects were detected by SNaPshot and DNA sequencing. The distribution of genotype and allele frequencies were analyzed and compared with HapMap-CEU, HapMap-JPT, HapMap-YRIand HapMap-HCB. Results There were CC (53.0%),T/C (38.7%) and TT (8.3%) genotypes of rs2588519 T/C in Guangxi population, while AA (7.4%), AG (37.5%) and GG(55.1%) were found in rs7582359 A/G. There were no significant differences of both genotype and allele frequencies between males and females in these sites(P>0.05). The genotype frequency of rs2588519 T/C was significantly different between HapMap-YRI and Guangxi people(P<0.05), and the allele frequency was significantly different among HapMap-CEU, HapMap-JPT and HapMap-YRI(P<0.05). The genotype and allele of rs7582359 A/G were statistically significant (P<0.05) when compared with those of HapMap-CEU and HapMap-YRI. Conclusion The rs2588519 T/C and rs7582359 A/G polymorphisms of RTN4 gene have different degrees of racial differences.

Key words: Reticulon 4, Gene polymorphism, Population, Multiple single nucleotide primer extension technique, DNA sequencing, Human