国际妇产科学杂志 ›› 2017, Vol. 44 ›› Issue (1): 80-83.

• 论著 • 上一篇    下一篇

HLA-G单核苷酸多态性与重度子痫前期的关联研究

贾艳菊,陈叙,崔洪艳,程兰   

  1. 天津市中心妇产科医院
  • 收稿日期:2016-08-15 修回日期:2016-10-11 出版日期:2017-02-15 发布日期:2017-03-28
  • 通讯作者: 贾艳菊 E-mail:jiayanju1975@126.com
  • 基金资助:
    HLA-G单核苷酸多态性 与重度子痫前期的关联研究

The Association Study Of HLA-G Single Nucleotide Polymorphisms And Severe Preeclampsia

  • Received:2016-08-15 Revised:2016-10-11 Published:2017-02-15 Online:2017-03-28
  • Contact: Yan-Ju JIA E-mail:jiayanju1975@126.com

摘要: 人类白细胞抗原(human leukocyte antigen,HLA)-G表达缺陷可导致子痫前期的产生,本文研究部分中国天津汉族孕妇HLA-G单核苷酸多态性(single nucleotide polymorphisms,SNPs)与子痫前期的相关性,以期进一步明确HLA-G在子痫前期免疫发病机制中的作用及子痫前期患者中HLA-G基因的多态性分布。目的:检测中国天津汉族孕妇HLA-G SNPs位点在重度子痫前期患者及正常孕妇中的分布,了解重度子痫前期患者HLA-G SNPs的变化。方法:收集重度子痫前期组67例和对照组37例血液样本,提取基因组DNA,选取HLA-G外显子(Exon)2、3为实验研究区域,合成荧光标记引物,PCR、测序进行片段序列SNPs分析。统计学分析所测SNPs位点与重度子痫前期的关联程度。 结果:在HLA-G Exon2发现2个SNPs,C374T及G476A,Exon3发现3个SNPs,C810T、C859A及G954A。其在重度子痫前期组及正常孕妇组间的分布无明显差异。结论:1. 在HLA-G Exon2、3共发现5个SNPs位点(C374T、G476A、C810T、C859A、G954A),均为同义突变,与重度子痫前期无相关。2. C374T和G954A为新发现的HLA-G SNPs,向dbSNP提交后获得NCBI Assay Id(ss#) 119994701 和119994702,Reference SNP Id(rs#): rs77474325和rs75783850。

关键词: 子痫前期, HLA-G, 基因, 外显子, 单核苷酸多态性

Abstract: Human leukocyte antigen (HLA)- G defects can result in the occrence of preeclampsia, in this paper, In order to clarify the role of HLA - G and its single nucleotide polymorphisms(SNPs) in preeclampsia furtherly,we detected the correlation between HLA-G SNPs and preeclampsia in pregnancy women of Chinese Han population in Tianjin. Objective: To detect the distribution of HLA-G SNPs which is one of the susceptibility genes of preeclampsia in severe preeclampsia patients and normal pregnant women, to understand the change of HLA-G SNPs in the patients with severe preeclampsia. Method: The blood samples were collected from 67 cases of severe preeclampsia group and 37 cases of control group, the genomic DNA of samples were extracted, the Exon-2 and Exon-3 of HLA-G SNPs were chosen to evaluate through sequencing, the fluorescent primers were synthesized and PCR was proceeded, the fragments obtained from PCR were sequenced and analyzed to find SNPs, The correlation of SNPs and severe preeclampsia was analyzed by statistical analysis. Results: Two SNPs, C374T and G476A were found in the Exon 2 of HLA-G. Three SNPs, C810T, C859A and G954A were found in Exon 3. There was no significant difference in the distribution of the SNPs between preeclamptic and normal pregnancies. Conclusions:1. Five SNPs (C374T, G476A, C810T, C859A and G954A) were found in the HLA-G Exon 2 and 3, which were not related to severe preeclampsia, these SNPs were synonymous mutations. 2. C374T and G954A were newly discovered HLA-G SNPs which were submitted to the dbSNP and obtained NCBI Assay Id (ss#) 119994701 and 119994702, and the Reference SNP Id (rs#): rs77474325 and rs75783850.

Key words: Preeclampsia, HLA - G, Gene, Exon, Single nucleotide polymorphisms