测序技术检测流产物拷贝数目变异的应用

发布时间：2018-06-12 00:01

本文选题：测序技术 + 拷贝数变异　；参考：《实用妇产科杂志》2015年09期

【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。
[Abstract]:Objective: to investigate the application of sequencing technique in chromosome diseases and the value of copy number variation in detection of miscarriage. Methods: from July 2013 to April 2014, 50 pregnant women in Guizhou Provincial Prenatal Diagnostic Center, affiliated Hospital of Guiyang Medical College, were selected. The gestational age was 723 weeks. Abortion was retained, DNA was extracted, library was prepared and high-throughput sequencing was performed. The DNA of the convection product was sequenced and the copy number variation of the abortion was obtained. At the same time, the chromosomal karyotype of pregnant women and abortive materials were analyzed. Results the chromosome copy number variation of flow product of 50 pregnant women was detected. Except for one case of maternal contamination, the positive rate of sequencing was 78% and the positive rate of chromosome karyotype was 28%. Conclusion: the positive rate of detecting abortion by sequencing technique is higher than that of chromosome karyotype. The changes of euploidy and unbalanced translocation can be detected by sequencing. And the detection of chromosome microdeletion microrepeat is better than that of chromosome karyotype detection. It is recommended to use convection products to detect the cause of abortion in clinic.
【作者单位】：贵阳医学院附属医院
【分类号】：R714.21

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