国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2018, Vol. 37 ›› Issue (3): 196-200.

• 论著 • 上一篇    下一篇

雌激素受体α PvuⅡ、XbaⅠ位点多态性与壮族男性生育力的相关性分析

李洁，元辉雄，庞艳芳，韦玉霞，陈文成，王俊利   

  1. 533000  广西壮族自治区百色市，右江民族医学院（李洁，元辉雄，庞艳芳）；右江民族医学院附属医院生殖中心（韦玉霞，陈文成，王俊利）
  • 收稿日期:2017-12-05 修回日期:2018-04-15 出版日期:2018-05-15 发布日期:2018-05-15
  • 通讯作者: 陈文成，E-mail：chwch3268@sina.com E-mail:chwch3268@sina.com
  • 基金资助:
    广西高校科学技术研究项目（ZD2014099）

Association of ERα PvuⅡ and XbaⅠ Polymorphism with Male Infertility in Chinese Zhuang Population

LI Jie，YUAN Hui-xiong，PANG Yan-fang，WEI Yu-xia，CHEN Wen-cheng，WANG Jun-li   

  1. Youjiang Medical University for Nationalities，Baise 533000，Guangxi Zhuang Autonomous Region，China（LI Jie，YUAN Hui-xiong，PANG Yan-fang）；Reproductive Medicine Center，Affiliated Hospital of Youjiang Medical University for Nationalities，Baise 533000，Guangxi Zhuang Autonomous Region，China（WEI Yu-xia，CHEN Wen-cheng，WANG Jun-li）
  • Received:2017-12-05 Revised:2018-04-15 Published:2018-05-15 Online:2018-05-15
  • Contact: CHEN Wen-cheng，E-mail：chwch3268@sina.com E-mail:chwch3268@sina.com

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摘要： 目的：研究雌激素受体α（ERα）PvuⅡ、XbaⅠ位点多态性与壮族男性生育力的相关性。方法：选取96例男性不育患者为观察组，76例生育男性为对照组，分别进行精液常规分析，采用限制性内切酶酶切及DNA测序技术对ERα PvuⅡ、XbaⅠ位点进行基因分型。结果：经检测XbaⅠ位点等位基因和基因型频率分布在2组之间差异具有统计学意义（P＜0.05）。进行遗传模型分析，Logistic回归校正年龄后发现ERα基因XbaⅠ在共显性（CC vs. TT）和隐性遗传模型下存在统计学关联（P＜0.05），T等位基因携带者患不育的风险比C等位基因低；PvuⅡ等位基因及基因型与男性不育无相关性。结论：ERα 基因XbaⅠ位点多态性可能与男性不育的发病风险存在相关性。

关键词: 雌激素受体α, 多态性, 限制性片段长度, 不育, 男（雄）性, 疾病遗传易感性

Abstract: Objective：To explore the association of single nucleotide polymorphism (SNP) of estrogen receptor α (ERα) gene with male infertility in Chinese Zhuang population. SNPs of PvuⅡ and XbaⅠ in ERα gene were checked as targets. Methods：A total of 96 infertile men were recruited as the observation group, and 76 fertile men as the control group. After routine semen analysis, the restricted enzyme digestion and DNA direct sequencing of PvuⅡ and XbaⅠ in ERα gene were performed. Results：The XbaⅠallele frequency and genotype distributions were significantly different between the control group and the observation group (all P＜0.05). Genetic model analysis showed that the ERα gene XbaⅠ were significantly different between the two groups under codominant (CC vs. TT) and recessive genetic model (both P＜0.05). Subjects carrying the T allele frequency of XbaⅠ had the decreased risk of infertility compared to the subjects carrying the G allele frequency. However, the SNPs of ERα gene Pvu Ⅱ did not show the correlation with male infertility. Conclusions：We concluded that in this study ERα XbaⅠ polymorphism was associated with male infertility.

Key words:  Estrogen receptor alpha, Polymorphism, restriction fragment length, Infertility, male, Genetic predisposition to disease