基因拷贝数变异检测在胚胎流产物遗传学检测中的应用  

Application of copy number variation analysis in the genetic analysis of missed abortion chorionic villi

作　　者：戚桂杰[1] 易建平[1] 郭婉茹[1] 刘恒[1] 张惠娟[1] QI Gui-jie;YI Jian-ping;GUO Wan-ru;LIU Heng;ZHANG Hui-juan(Tangshan Woman and Child Health Care Hospital,Prenatal Diagnos Center,Hebei,Tangshan 03000)

机构地区：[1]唐山市妇幼保健院产前诊断中心,河北唐山030000

出　　处：《中国优生与遗传杂志》2018年第7期14-16,104,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨基于高通量测序技术的基因拷贝数变异检测(NGS-CNVs)在胚胎流产物遗传学诊断中的价值。方法选取2015年6月至2016年2月在唐山市妇幼保健院产前诊断中心确诊为稽留流产,流产原因不明,要求遗传学检测的样本105例。在知情同意的前提下行绒毛细胞培养染色体核型分析检查和NGS-CNVs检测。分析两种诊断方法的检测结果。结果 (1)NGS-CNVs成功检测101例(96.0%),失败4例(4.0%)。诊断染色体异常53例(50.5%),其中包括数目异常36例(34.3%)、结构异常(微缺失或重复)17例(16.2%)、48例未见异常(45.7%)。(2)染色体核型分析成功检测89例(84.8%),失败16例(15.2%)。诊断染色体异常38例(36.2%),其中包括数目异常32例(30.5%)、结构异常(平衡易位及多态性)6例(5.7%)、51例未见异常(48.6%)。(3)两种技术相比,NGS-CNVs检测成功率明显高于绒毛细胞培养染色体核型分析,差异具有统计学意义(P=0.005);NGS-CNVs检测出更多的染色体结构异常,差异具有统计学意义(P=0.015)。NGS-CNVs检测染色体数目异常结果与绒毛细胞培养染色体核型分析结果一致。结论 NGS-CNVs检测用于胚胎流产物遗传学检测切实可行。NGS-CNVs可以快速准确的检测出染色体数目异常,同时能够检测出常规染色体核型分析无法发现的大量微缺失或重复,其临床意义有待进一步证实。Objective：To investigate the value of copy number variation analysis based on next-generation sequencing（NGS-CNVs）in the genetic analysis of missed abortion chorionic villi. Methods：From June 2015 to February 2016,chorionic villi from 105 cases of missed abortion were selected. NGS-CNVs and karyotype analysis were performed to all the cases. Results：NGS-CNVs in the clinical application of genetic testing results show that the flow product NGS-CNVs and villus cell culture comparative karyotype analysis technology,NGS-CNVs detection rate is significantly higher than that of karyotype analysis,difference was statistically significant（P=0.005）.Villus cell culture,chromosome analysis can detect more balanced translocation chromosome,statistically significant difference;Clinical application of NGS-CNVs technology to detect chromosome aneuploidy,the results consistent with karyotype analysis. Compared with chromosome karyotype analysis,by NGSCNVs technology more chromosome abnormal microstructure were found,statistically significant difference,（P=0.015）. The NGS-CNVs results of 32 cases with chromosomal numerical abnormalities were consistent with that of karyotype. Conclution：NGS-CNVs detection used in the product flow,loss of amniotic fluid cells chromosome micro,micro repetitive genetic testing is feasible,can quickly and accurately find common chromosomal abnormalities. Detection of chromosomal aneuploidy results consistent with the results of karyotype analysis. NGS-CNVs can detection more abnormal microstructure which clinical significance remains to be further confirmed.

关 键 词：高通量测序技术 基因拷贝数变异检测 绒毛细胞 染色体异常 

分 类 号：R394.3[医药卫生—医学遗传学]