YAP基因外显子SNP与不明原因复发性流产的相关性  

Association between single-nucleotide polymorphisms in exons of YAP gene and unexplained recurrent spontaneous abortion

作　　者：李静[1] 程蕾 李瑞英[1] 宋安娜 孔俏俏 刘涛 LI Jing;CHENG Lei;LI Ruiying;SONG Anna;KONG Qiaoqiao;LIU Tao(Department of Reproduction and Genetics,Central Hospital of Taian,Taian 271000,China;Reproductive Laboratory,Reproductive Hospital Affiliated to Shandong University,Jinan 250000,China)

机构地区：[1]泰安市中心医院生殖遗传科,山东泰安271000 [2]山东大学附属生殖医院生殖实验室,山东济南250000

出　　处：《山东第一医科大学（山东省医学科学院）学报》2022年第8期561-565,共5页Journal of Shandong First Medical University ＆ Shandong Academy of Medical Sciences

基　　金：泰安市科技发展计划(2019NS237,2020NS221,2016NS1073);山东省医药卫生科技发展计划(2019WS209,2015WS0123);山东省自然科学基金(ZR2020QC102)。

摘　　要：目的探索YAP(Yes‑association protein)基因的单核苷酸多态性(single nucleotide polymorphism,SNP)与不明原因复发性流产(unexplained recurrent spontaneous abortion,URSA)的相关性,为URSA的遗传学诊断和致病风险预测提供理论依据。方法选择泰安市中心医院72例URSA患者(URSA组)与20例可孕妇女(对照组),分别采集外周血和胎盘绒毛组织,用Sanger双脱氧终止测序法,对YAP基因的1~9外显子进行全外显子SNP筛查。结果URSA组和对照组的外周血和胎盘绒毛组织中YAP基因的9个外显子均未检测到位点突变。结论YAP基因的外显子突变与URSA的发生无直接关系。Objective:Unexplained recurrent spontaneous abortion(URSA),with largely unknown etiology as its name implies,accounts for 50%of recurrent miscarriages.Investigation on factors that regulate the pathogenesis of URSA holds great potential for clinical diagnosis and treatment.Yes-association protein(YAP)gene plays a critical role in embryonic development,especially in the invasion of trophoblast into the maternal uterus.However,the involvement of YAP in URSA has not been explored.In addition,the role of single nucleotide polymorphism(SNP)in human disease has been well documented.Aiming to provide a genetic basis for the diagnosis and risk prediction of URSA,we evaluated the association between SNPs on YAP and URSA in this study.Methods:Peripheral blood and placental villi were collected from 72 URSA patients and 20 fertile women(controls),and the exons 1−9 of the YAP gene were determined by Sanger Sequencing.Results:No SNP was detected from either the peripheral blood or the placental villus.Conclusion:There is no direct association between site mutation on YAP and URSA.

关 键 词：不明原因复发性流产 YAP基因 SNP 

分 类 号：R714.21[医药卫生—妇产科学]