摘要
目的：探讨染色体畸变检测技术（高通量测序及短串联重复序列）在自然流产绒毛组织染色体核型检测中的临床应用价值。方法对27例妊娠后发生自然流产者的绒毛组织同时行细胞培养染色体核型分析和染色体畸变检测，比较两种方法的检测结果，分析其临床应用价值。结果（1）两种方法成功率的比较：27例样本经细胞培养染色体核型分析成功23例，成功率85％（23／27）；染色体畸变检测成功26例，成功率为96％（26／27）；差异无统计学意义（P＞0．05）。（2）绒毛培养失败4例的检测：经染色体畸变技术检测成功3例，其结果均为阳性。（3）两种方法阳性率比较：23例样本核型分析结果发现染色体正常10例，异常13例，阳性率为57％；26例样本经染色体畸变检测发现染色体正常3例，异常23例，阳性率为85％，差异有统计学意义（χ2＝6．387，P＜0．05）。（4）核型分析与染色体畸变检测发现染色体数目异常分别为52％（12／23）和50％（13／26）；细胞培养染色体核型分析正常的10例标本中，经染色体畸变技术检测7例存在微缺失／微重复。结论染色体畸变检测技术对染色体非整倍体、异倍体和片段缺失／重复异常的检测精准性高、成功率高，对自然流产病因遗传学检测具有重要意义和实用价值。
Objective To analyze the clinical application of high-throughput gene sequencing technolo-gy and STR in chromosome karyotype analysis of the villus tissues of spontaneous abortion. Methods In 27 ca-ses of spontaneous abortion after pregnancy,classic cell of villus tissues culture and chromosomal karyotype anal-ysis,and high -throughput gene sequencing technology and STR were performed,and then compared the analysis results of two methods. Results （ 1） The successful rate of cell of villus tissues culture and chromosomal karyo-type analysis was 85%（ 23/27） ,of high-throughput gene sequencing technology and STR was 96%（ 26/27） ,and the difference was not significant（ P〉0. 05） （ 2） In the 4 cases that failed in karyotype analysis,there were 3 ca-ses showed abnormal chromosomal number variation（ CNV） in high-throughput gene sequencing technology and STR. （ 3） Of the 23 cases,chorionic villus was successfully cultured in 10 cases,abnormal karyotypes were iden-tified in 13 cases,the positive rate was 57%. Of the 26 cases,high-throughput gene sequencing technology and STR was successfully checked in 3 cases,abnormal CNV were identified in 23 cases,the positive rate was 85%, the difference was significant（χ2=6.387,P〈0.05）. （4）The rates of chromosomal number abnormality were 52%（ 12/23） and 50% （ 13/26） of karyotype analysis and chromosome aberration detection,respectively. In 10 cases of normal cell culture karyotype,there were 7 cases in the presence of micro deletion / micro repetition de-tected by high-throughput gene sequencing technology and STR. Conclusion The method of massively parallel sequencing in chromosome analysis,compared with the method of cell of villus tissues culture and chromosome a-nalysis,can be accurate and quick,and has high successful rate in detecting the chromosome of non aneuploid and deletion/duplication abnormality,which can be a good complementary and alternative method of the classic cell of villus tissues culture and chromosome karyotype an
出处
《中国综合临床》
2016年第10期950-953,共4页
Clinical Medicine of China
关键词
自然流产
绒毛组织
染色体核型分析
高通量测序
短串联重复序列
Spontaneous abortion
Villus tissues
Chromosomal karyotype analysis
High-throughput gene sequencing technology
Short tandem repeat
