Array-CGH技术在胚胎植入前遗传学诊断中的应用进展.pdfVIP

·976 · 中华临床医师杂志( 电子版)2015 年3 月第9 卷第6 期 Chin J Clinicians(Electronic Edition),March 15,2015,Vol.9,No.6 ·综述· Array-CGH 技术在胚胎植入前遗传学诊断中的应用进展 韩丹 陈大蔚 曹云霞 周平 【摘要】 微阵列比较基因组杂交（aCGH ）作为一种新兴的高通量检测技术，给分子生物学 及医学研究带来了巨大变化，因其检测范围覆盖全基因组、高效率、操作简便等特点，在人类遗传 疾病诊断，肿瘤基因组学，系统生物学研究及产前诊断中已有了广泛应用。植入前遗传学诊断（PGD ） 是辅助生殖技术的重要组成部分，随着分子遗传学技术的发展，其应用范围也不断拓宽。基于aCGH 技术在PGD 中对胚胎全染色体组非整倍体及结构异常的筛查，PGD/植入前遗传学筛查（PGS ）胚胎 植入率和临床妊娠率均有显著提高，本文就aCGH技术在胚胎植入前遗传学诊断中的应用进行综述。 【关键词】 微阵列比较基因组杂交； 植入前遗传学诊断； 辅助生殖技术 Application of the micro-array comparative genomic hybridization technology in preimplantation genetic diagnosis Han Dan, Chen Dawei, Cao Yunxia, Zhou Ping. Reproductive Center, the First Affiliated Hospital of Anhui Medical University, Hefei 230001, China Corresponding author: Zhou Ping, Email: zhoup_325@ 【Abstract 】 As a new kind high-throughput genomics technology, micro array-based comparative genomic hybridization (aCGH) has brought the huge change for molecular biology and medical research. Because of the detection range covers the whole genome, high efficiency, easy operation etc, aCGH has been widely used in many areas of human genetic disease diagnosis, tumor genomics, systems biology and prenatal diagnosis. Human preimplantation genetic diagnosis (PGD) is an important part of assisted reproductive technology, with the development of molecular genetics technology, its application range is continuously widening. Based on aCGH technology in PGD for embryonic whole genome screening for aneuploidy and structural abnormalities, human PGD/human preimplantation genetic screening (PGS) implantation rate and clinical pregnancy rate have improved significantly. In this article, we discussed the advantages, disadvantages and prospects of aCGH in prenatal diagnosis. 【Key words 】 Micro array-based comparative geno