男性不育患者卵裂期胚胎Y染色体微缺失检测分析  

Y-microdeletion screening of cleavage-stage embryos in infertile man

作　　者：张伟伟[1] 卓胜楠[1] 张云山[2] 罗海宁[2] 

机构地区：[1]天津医科大学,300070 [2]天津市中心妇产科医院生殖医学中心

出　　处：《中国计划生育学杂志》2013年第11期746-750,共5页Chinese Journal of Family Planning

基　　金：天津市卫生局科技基金(2011KZ69)

摘　　要：目的:探讨男性不育患者行卵胞浆内单精子注射(ICSI)技术治疗后卵裂期胚胎Y染色体微缺失情况。方法:对行ICSI助孕治疗的19例严重少精和无精症患者行外周血Y染色体微缺失(AZF)检测,并选取其第3天移植后剩余的无冷冻价值的双原核(2pn)和单原核(1pn)胚胎,通过显微操作获得单个卵裂球,通过多重置换扩增(MDA)技术进行全基因组扩增,采用多重聚合酶链反应(PCR)进行性别鉴定,对男性胚胎行AZF微缺失检测。结果:①AZF缺失占2/19;②MDA扩增成功率为93.2%(41/44);③对23例男性胚胎行AZF缺失检测,SRY基因扩增成功率为87.0%(20/23),9个男性胚胎发生AZF缺失(9/23),其中3个为垂直遗传,1个缺失范围扩大,5个为新生缺失。结论:Y染色体微缺失可通过ICSI技术从父代遗传给子代,并可在遗传过程中发生Y染色体新生微缺失和缺失范围扩大。Objective：To explore the microdeletion types of cleavage-stage embryos using multiple displacement amplification （MDA） combined with polymerase chain reaction （PCR） in infertile men.Methods：Intracytoplasmic sperm injection （ICSI）-treated patients were screened for Yq deletion and the discarded dual pronuclear （2pn） and single pronucleus （1pn） derivate embryos of day 3 were collected after embryo transfer and cryopreservation from these patients.One blastomere were biopsied by micromanipulation and whole genome of the blastomere was amplified by MDA,then PCR was used to determine the sex of a single cell,and multiple PCR to detect the type of Y-microdeletion of the male embryos.Results：The total prevalence of microdeletion was 2/19.The success rate of MDA amplification was 93.2％ （41/44）,23 embryos were males and 18 were females.The success rate of sex-determining region on the Y chromosome （SRY） amplification was 87.0％ （20/23）,and three embryos were vertical transmitted,one had a larger deletion than his father,five were de novo deletions and the left had no deletions.Conclusion：ICSI treatment might lead to vertical transmission,expansion,and de novo occurrence of Yq microdeletion in male embryos.

关 键 词：多重置换扩增(MDA) Y染色体微缺失 卵胞浆内单精子注射 

分 类 号：R698.2[医药卫生—泌尿科学]