国际生殖健康/计划生育杂志Issue(3)：165-167,3.
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
摘要
Abstract
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Key words
Preimplantation diagnosis/Microarray analysis/Hybridization, genetic/Genome/Translocation, genetic引用本文复制引用
沈鉴东,吴畏,蔡令波,谢佳孜,马龙,孙雪萍,高超,崔毓桂,刘嘉茵..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[J].国际生殖健康/计划生育杂志,2014,(3):165-167,3.基金项目
国家973项目（2012CB944902），江苏省科技厅项目 （）
