解剖学报

解剖学报 ›› 2021, Vol. 52 ›› Issue (2): 306-310.doi: 10.16098/j.issn.0529-1356.2021.02.023

• 人类学 • 上一篇    下一篇

醛固酮合成酶基因启动子-344T/C 多态性与青海省汉族孕妇子痫前期的相关性

李文佳1 王茹1 段倩1 李长兴1 李红荣2 李建华1*   

  1. 1. 青海大学医学院基础医学部人体解剖学教研室，西宁 810001; 2. 甘肃省武威肿瘤医院外科，甘肃 武威 733000
  • 收稿日期:2020-08-20 修回日期:2020-11-30 出版日期:2021-04-06 发布日期:2021-04-06
  • 通讯作者: 李建华 E-mail:529982120@qq.com
  • 基金资助:
    青藏高原人类遗传资源样本库实验平台建设

Association between the polymorphism of aldosterone synthase gene promoter-344T/C and preeclampsia in Qinghai Province

LI Wen-jia1 WANG Ru1 DUAN Qian1 LI Chang-xing1 LI Hong-rong2 LI Jian-hua1*   

  1. 1.Department of Human Anatomy，Basic Medicine Science，Medical College of Qinghai University，Xining 810001，China; 2.Department of Surgery，Gansu Wuwei Tumor Hospital，Gansu Wuwei 733000，China
  • Received:2020-08-20 Revised:2020-11-30 Online:2021-04-06 Published:2021-04-06
  • Contact: LI Jian-hua E-mail:529982120@qq.com

PDF

摘要：

目的 探讨青海省汉族孕妇子痫前期（PE）与醛固酮合成酶基因（CYP11B2）启动子区单核苷酸多态性的关系。   方法  选择青海省PE患者149例，正常妊娠对照组155 例，应用聚合酶链反应-限制性内切酶片段长度多态性 (PCR-RFLP) 方法，分析PE组和对照组CYP11B2-344T/C多态性分型并测序验证。   结果  PE组基因型频率TT型、CT型及CC型分别为43.0%、45.6%和11.4%，对照组分别为51.0%、45.1%和3.9%。PE组和对照组醛固酮合酶基因-344T/C位点等位基因T和C频率分布具有差异性(P<0.05)，PE组C等位基因频率高于对照组（χ2=4.354，P<0.05, OR=0.691, 95% CI=0.49～0.98）。   结论  CYP11B2-344T/C多态性与青海省子痫前期有关，C等位基因可能是子痫前期的易感基因。

关键词: 青海, 醛固酮合酶, 子痫前期, 基因多态性, 限制性片段长度多态性聚合酶链反应, 孕妇

Abstract:

Objective  To investigate the relationship between preeclampsia (PE) and polymorphism of aldosterone synthase gene (CYP11B2) promoter region-344T/C in Qinghai Province.    Methods  A total of 120 PE subjects and 155 normal pregnancy subjects were studied. The genotype of CYP11B2 was analyzed by polymerase chain reaction fragment length polymorphism (PCR-RFLP)．The mutation was confirmed by sequencing.    Results  The frequencies of CYP11B2 TT, CT and CC genotype in the PE group were 43.0%, 45.6%, and 11.4%, and in the control group were 51.0%, 45.1%, and 3.9%, respectively. There was difference in frequency distribution of CYP11B2 genotype between the PE and control groups．The frequency of C allele in the PE group was higher than the control group（χ2=4.354，P<0.05, OR=0.691, 95% CI=0.49-0.98）.    Conclusion  The CYP11B2-344T/C polymorphism is related to preeclampsia in Qinghai Province, and the C allele may be a susceptibility gene of preeclampsia.

Key words: Qinghai, Aldosterone synthase, Preeclampsia, Gene polymorphism, Restriction fragment length polymorphism polymerase chain reaction, Pregnant woman

中图分类号: