WGA、RDB结合STR单体型分析在β⁃地中海贫血胚胎植入前遗传学诊断中的应用  

Application of WGA,RDB and STR haplotype analysis in preimplantation genetic diagnosis of β⁃thalassemia

作　　者：李伍高 严提珍 李哲涛 唐永梅 秦祖兴 李忻琳 蔡稔 LI Wugao;YAN Tizhen;LI Zhetao;TANG Yongmei;QIN Zuxing;LI Xinlin;CAI Ren(Reproductive Centre of Liuzhou Municipal and Child Healthcare hospital,Liuzhou,Guangxi,China,545001;Department of Medical Genetics,Liuzhou Municipal and Child Healthcare hospital,Liuzhou Key Laboratory of Birth Defect Prevention and Control,Liuzhou,Guangxi,China,545001)

机构地区：[1]柳州市妇幼保健院生殖健康助孕中心,广西柳州545001 [2]柳州市妇幼保健院医学遗传科,柳州市出生缺陷预防与控制重点实验室,广西柳州545001

出　　处：《分子诊断与治疗杂志》2020年第2期138-141,155,共5页Journal of Molecular Diagnostics and Therapy

基　　金：广西壮族自治区卫生和计划生育委员会自筹经费科研课题(Z20170527);柳州市科学研究与技术开发计划课题(2014G020404、2017BH20312和2018AF10501)。

摘　　要：目的分析全基因组扩增技术结合致病位点检测和短串联重复序列单体型分析进行β⁃地中海贫血胚胎植入前遗传学诊断效果。方法对2017年1月至2018年12月在本院进行β⁃地中海贫血植入前遗传学诊断的囊胚检测结果进行分析,统计植入前遗传学诊断检测结果与产前诊断结果。结果纳入统计分析的合计71个检测周期501枚囊胚,检测成功率94.4%(473/501)。其中69对夫妻进行了移植,移植周期92个,生化妊娠率63.04%,临床妊娠率53.26%,合计45对夫妇进行了产前诊断或流产物分析,符合率100%。结论利用全基因组扩增技术结合致病位点检测和短串联重复序列单体型分析进行β⁃地中海贫血胚胎植入前遗传学检测准确率高,能满足临床工作需求。Objective To analyze the preimplantation genetic diagnosis(PGD)effect of beta⁃thal⁃assemia by whole genome amplification combined with pathogenic site detection and short tandem repeat se⁃quence haplotype analysis.Methods The blastocyst test results of beta⁃thalassemia PGD in our hospital from January 2017 to December 2018 were analyzed retrospectively.The results of PGD test and prenatal diagnosis were analyzed.Results A total of 501 blastocysts in 71 detection cycles were included in the statistical analy⁃sis,of which the detection success rate was 94.4%(473/501).Among them,69 couples were transplanted with 92 transplantation cycles,the biochemical pregnancy rate was 63.04%,and the clinical pregnancy rate was 53.26%.A total of 45 couples underwent prenatal diagnosis or abortion product analysis,the coincidence rate was 100%.Conclusion Preimplantation genetic detection of beta⁃thalassemia embryos by genome⁃wide amplification combined with pathogenic site detection and short tandem repeat sequence haplotype analysis has high accuracy and can meet the needs of clinical work.

关 键 词：HBB基因 植入前遗传学诊断 全基因组扩增 短串联重复序列单体型分析 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]