摘要
目的探讨大规模平行测序方法在自然流产绒毛组织的染色体核型检测中的临床应用。方法对28例妊娠后发生自然流产者的绒毛组织,进行绒毛组织细胞培养染色体核型分析的同时进行大规模平行测序检测,将两种方法的检测结果进行比较。结果绒毛组织细胞培养染色体核型分析成功率为96.4%(27/28),大规模平行测序成功率为96.4%(27/28)。两种方法均分析成功的26例样本中,22例分析结果完全一致,符合率为84.6%(22/26)。结论大规模平行测序方法与绒毛组织细胞培养染色体核型分析方法相比,对染色体非整倍体和片段缺失/重复异常的检测,准确快捷、成功率高,是绒毛组织细胞培养染色体核型分析方法的一种很好的补充和替代方法。
Objective： To explore the clinical application of massively parallel sequencing method in chromosome karyotype detection of the villus tissues of spontaneous abortion. Methods： To collect 28 cases of villus tissues of spontaneous abortion in normal pregnancy, these cases were detected by classic cell of villus tissues culture and chromosomal karyotype analysis, and also detected by massively parallel sequencing, and then to compare the analysis results of two methods. Results： the successful rate of ceU of villus tissues culture and chromosomal karyotype analysis was 96.4% （27128） , the successful rate of massively parallel sequencing was 96.4% （27/28） . 22 cases of analysis results in the 26 successful samples were the coincident, which were detected by the two methods, the coincident rate was 84.6% （22/26） . Conclusion： The method of massively parallel sequencing in chromosome analysis, compared with the method of cell of villus tissues culture and chromosome analysis, can be accurate and quick, and has high successful rate in detecting the chromosome of non aneuploid and deletion/duplication abnormality, it can be a good complementary and alternative method of the classic cell of villus tissues culture and chromosome karyotype analysis.
出处
《中国优生与遗传杂志》
2014年第12期28-30,33,共4页
Chinese Journal of Birth Health & Heredity
关键词
自然流产
绒毛组织
染色体核型分析
新一代基因测序
大规模平行测序
spontaneous abortion
villus tissues
chromosome karyotype analysis
next generation sequencing
massivelyparallel sequencing
