维生素D受体基因多态性与不明原因复发性流产相关性分析  

Clinic research between vdr gene polymorphism and unexplained miscarriage

作　　者：张怡梅[1] 咸会丽 罗俊娥[1] 王鑫 宋涛[1] ZHANG Yimei;XIAN Huili;LUO June;WANG Xin;SONG Tao(Department of Gynecology,Weifang Maternal and Child Health Hospital,Weifang 261071,China)

机构地区：[1]潍坊市妇幼保健院妇科,山东潍坊261071

出　　处：《潍坊医学院学报》2023年第5期345-347,共3页Acta Academiae Medicinae Weifang

基　　金：潍坊市科技发展计划项目(项目编号:2020YX052)。

摘　　要：目的对不明原因复发性流产患者夫妇进行维生素D受体(VDR)基因多态性分析,探讨VDR基因多态性与不明原因复发性流产的相关性。方法纳入127例不明原因复发性流产患者和88例正常生育对照人群作为研究对象,对维生素D基因受体4个多态位点ApaI(rs7975232)、BsmI(rs1544410)、FokI(rs2228570)、TaqI(rs731236)进行一代测序,分析基因多态位点基因型频率在病例组和对照组的差异。结果VDR基因相关的4个多态位点:ApaI基因位点在野生型、杂合型及突变型均发现,实验组分别为55.12%,35.43%,9.45%,对照组43.18%,45.45%,11.36%,两组比较,差异无统计学意义(P>0.05)。BsmI基因位点发现野生型及杂合型,未发现突变型,实验组分别为88.8%,11.2%,对照组86.36%,13.64%,两组比较,差异无统计学意义(P>0.05)。FokI基因位点发现野生型、杂合型及突变型,实验组分别为29.84%,42.74%,27.42%,对照组25%,46.59%,28.41%,两组比较,差异无统计学意义(P>0.05)。TaqI基因位点发现野生型及杂合型,未发现突变型,实验组分别88.89%,11.11%,对照组86.36%,13.64%,两组比较,差异无统计学意义(P>0.05)。结论VDR基因常见的多态位点与不明原因复发性流产的发生可能无相关性,需进一步扩大样本研究证实。Objective To screen the vitamin D receptor(VDR)gene polymorphism in the patients with unexplained recurrent miscarriage(URM),in order to detect the relationship between VDR gene polymorphism and URM.Methods A total of 127 cases of patients with RM and 88 cases of controls were enrolled.The four common gene sites of VDR,ApaI(rs7975232),BsmI(rs1544410),FokI(rs2228570)and TaqI(rs731236)were detected by using Sanger sequencing method,and analyzed.Results The rate of wild type of ApaI in case group was 55.12%,and 43.18%in control group;The heterozygous type was 35.43%in case group,and 45.45%in control group;The mutant type was 9.45%in case group,and 11.36%in control group.There is no significant difference between case group and control group.The rates of wild type and heterozygous type of BsmI in case group were 88.8%and 11.2%respectively,and 86.36%and13.64%in control group respectively.No mutant type was found in both groups.There is no significant difference between case group and control group.The rates of wild type,heterozygous type and mutant type of FokI in case group were 29.84%,42.74%and 27.42%,and those in control group were 25%,46.59%and 28.41%respectively.There is no significant difference between cases and controls.The rates of wild type and heterozygous type of TaqI in case group were 88.89%and 11.11%,and those in control group were 86.36%and 13.64%respectively.No mutant type was found in both groups.There is no significant difference between case group and control group.Conclusion The common and hot gene sites of VDR may not be one of the predictors of URM,but we still need more evidence to prove it.

关 键 词：维生素D受体 不明原因复发性流产 基因多态性 

分 类 号：R714.21[医药卫生—妇产科学]