微阵列比较基因组杂交技术在染色体易位胚胎植入前遗传学诊断中的应用  

Application of Micro-Array Comparative Genomic Hybridization on Preimplantation Genetic Diagnosis for Chromosome Translocation

作　　者：沈鉴东 吴畏 蔡令波 谢佳孜 马龙 孙雪萍 高超 崔毓桂 刘嘉茵 

机构地区：[1]南京医科大学第一附属医院生殖医学科生殖医学国家重点实验室,210029

出　　处：《国际生殖健康／计划生育杂志》2014年第3期165-167,F0003,共4页Journal of International Reproductive Health/Family Planning

基　　金：国家973项目(2012CB944902);江苏省科技厅项目(BL2012009;BM2013058);卫生厅项目(FXK201221)

摘　　要：目的:评估微阵列比较基因组杂交(aCGH)技术在染色体相互平衡易位和罗氏易位胚胎植入前遗传学诊断(PGD)中的应用效果。方法:卵裂期胚胎活检单个卵裂球,用于全基因组扩增后,利用aCGH技术进行染色体组拷贝数变异检测,选择染色体平衡的胚胎移植,随访跟踪临床结局。结果:90例临床PGD取卵周期中,相互平衡易位58例,罗氏易位32例,共活检卵裂期胚胎528枚,明确诊断518枚(98.1%),总体单胚胎移植临床持续妊娠率46.8%。其中,相互平衡易位新鲜周期移植持续妊娠率38.7%,冷冻周期持续妊娠率45.0%;罗氏易位冷冻周期持续妊娠率61.5%。结论:aCGH技术在染色体易位PGD中应用能够获得理想的临床妊娠结局。Objective：To estimate the efficiency of preimplantation genetic diagnosis for reciprocal and Robertsonian translocations using the array comparative genomic hybridization （aCGH） technology. Methods：Cell biopsy was carried out on the cleavage-stage embryos （Day3）. Single cell was firstly lysed and DNA amplified by whole genome amplification （WGA）. WGA product was then processed by aCGH. Embryos with normal and balanced chromosomes were transferred. Results：Total of 90 cases of clinical PGD oocyte retrieval cycles included 58 cases of reciprocal balanced translocation and 32 cases of Robertsonian translocation. Total of 528 embryos were biopsied, of which 518（98.1%） embryos got the confirmed diagnoses. Single embryo transfer was adopted with the clinical ongoing pregnancy rate of 46.8%. The ongoing pregnancy rate of the reciprocal balanced translocation in fresh cycles was 38.7%, and that in freezed cycles 45.0%. The Robertsonian translocation pregnancy rate in freezed cycles was 61.5%. Conclusions：Application of aCGH in the reciprocal and Robertsonian translocation PGD can obviously improve clinical outcomes.

关 键 词：植入前诊断 微阵列分析 杂交 遗传 基因组 易位 遗传 

分 类 号：R714.8[医药卫生—妇产科学]