测序技术检测流产物拷贝数目变异的应用  

The Application of Illumina Sequencing Technology to Detect the Variation of Copy-number in the Abortus

作　　者：余蕾[1] 杨国珍[1] 程明亮[1] 罗新[2] 夏曙华[1] 王碧[1] 程树强[1] 孙朝琴[1] 简单[1] 王荔平[1] 

机构地区：[1]贵阳医学院附属医院贵州省产前诊断中心,贵州贵阳550000 [2]暨南大学附属第一医院,广东广州510630

出　　处：《实用妇产科杂志》2015年第9期701-705,共5页Journal of Practical Obstetrics and Gynecology

摘　　要：目的：采用测序技术检测拷贝数变异,探讨测序技术在染色体疾病上的应用和拷贝数变异在流产物检测中的应用价值。方法：选择2013年7月至2014年4月在贵阳医学院附属医院贵州省产前诊断中心就诊孕妇中胚胎停止发育的50例患者,孕周为7-23周,留取流产物,提取DNA,制备文库,高通量测序,对流产物DNA进行测序分析,得出流产物的拷贝数变异。同时对孕妇和流产物做染色体核型分析。结果：50例孕妇的流产物染色体基因拷贝数变异检测,除1例为母源性污染,未得出结果外,测序检出率78%,染色体核型检出率为28%。结论：测序技术检测流产物的检出阳性率高于染色体核型检出率,流产物染色体核型能检出的整倍体改变、非平衡易位改变,测序技术均能检出,且在染色体微缺失微重复检出上优于染色体核型检出,推荐临床上使用对流产物进行测序技术检测查找流产原因。Objective：To apply sequencing technology to detecting the variation of copy-number and explore the application of sequencing technology in chromosomal diseases and the application of variation of copy-number detecting in abortus. Methods ：50 cases of patients with early embryonic death with gestational age between 7 and 23 weeks from Guizhou Prenatal Diagnosis Center in Affiliated Hospital of Guiyang Medical College from July of 2013 to April of 2014 were selected. The variation of copy-number in abortus was obtained after abortus cellection, DNA extraction, library preparation, high-throughput sequencing application, and performing sequencing analyses of DNA in abortus. The chromosomal karyotype for pregnant women and abortus was also identified. Re- sults： In all 50 cases,the abnormal detection rate of the variation of copy-number was 78% via sequencing tech- nology,compared with 28% via chromosomal karyotypes detection except one with maternal pollution. Conclu- sions=Sequencing technology is more sensitive than chromosomal karyotypes detection of the variation of cop- y-number in abortus especially in chromosome micro-deletion and micro-duplication. This technology is recom- mended to be applied to clinical.

关 键 词：测序技术 拷贝数变异 染色体核型分析 流产物 

分 类 号：R714.21[医药卫生—妇产科学]