微阵列比较基因组杂交技术用于植入前胚胎非整倍体筛查的初步观察  

Application of aCGH in preimplantation genetic screening

作　　者：吕永焕[1] 宋学茹[1] 鲁琳琳[1] 赵晓徽[1] 吕睿[1] 白晓红[1] 

机构地区：[1]天津医科大学总医院妇产科生殖中心,300052

出　　处：《中国计划生育学杂志》2013年第9期618-623,共6页Chinese Journal of Family Planning

基　　金：天津医科大学校级重点项目(2009xk43)

摘　　要：目的：探讨微阵列比较基因组杂交（aCGH）技术在植入前胚胎非整倍体筛查中的应用.方法：选取就诊于天津医科大学总医院生殖中心行体外受精-胚胎移植患者冻存的正常8细胞胚胎4枚,患者夫妇均自愿捐献冻存胚胎用于科研并签订知情同意书.分别从4枚冻融胚胎中获取卵裂球进行多重置换扩增,扩增产物经过酶切、荧光标记、纯化、定量后与处理后的正常女性单个淋巴细胞扩增产物共同杂交（采用aCGH芯片）,利用Agilent扫描仪扫描芯片、获取图像并通过软件读取和分析数据,将重复/缺失区域在染色体上定位.结果：胚胎1的1～4号样本中1号样本的aCGH结果为47,XX,del（5）（p15.33-p12）,del（9）（q13-q34.13）,＋21;2～4号样本均为46,XX.胚胎2的5、6号样本结果均为47,XX,＋19.胚胎3的7、8号样本结果均为46,XX.胚胎4的9、10号样本结果均为46,XY.结论：aCGH能够用于检测植入前胚胎单个卵裂球细胞全基因组的非整倍体筛查.Objective：To explore the application of array comparative genomic hybridization （aCGH） in screening aneuploidy of human embryos before transfer.Methods：Four cryopreserved normal 8-cell phrase embryos were selected from women who underwent in vitro fertilization treatment in Reproductive Medicine Center of Tianjin Medical University General Hospital.Couples voluntarily donated frozen embryos for research and signed informed consent.Blastomeres were obtained from four frozen -thawed embryos,then multiple displacement amplification was conducted.After enzyme digestion,fluorescent labeling,purification and quantify,amplification products hybridized using aCGH chip.Hybridized aCGH chip was scanned by Agilent Scanner.Obtained image was read and analyzed with Feature exaction 9.5.Results：Samples 1-4 were obtained from embryo 1.And the karyotype of sample 1 detecting by aCGH was 47,XX,del （5） （p15.33-p12）,del（9） （q13-q34.13）,＋ 21.It was different from sample 2-4 which were 46,XX.Both of sample 5 and 6 were obtained from embryo 2.And the karyotypes of them were 47,XX,＋ 19.Sample 7 and 8 were obtained from embryo 3,both of them were 46,XX.Samples 9 and 10 were obtained from embryo 4,and their karyotypes were 46,XY.Conclusion：aCGH can be successfully used to detect whole genome aneuploidy of human embryos before transfer.

关 键 词：植入前遗传学筛查 微阵列比较基因组杂交 体外受精-胚胎移植 非整倍体 多重置换扩增 

分 类 号：R714.8[医药卫生—妇产科学]