高通量测序技术与传统染色体核型分析技术在稽留流产遗传学分析中的比较  

The comparison of the high-throughput sequencing technology and the conventional karyotyping technology in genetic analysis of spontaneous abortion

作　　者：蔡莉蓉[1] 戚红[1] 祝建疆[1] 杨锴[1] 陈佳靓[1] 曾雯[1] 闻小慧[1] 张磊 佟军威 

机构地区：[1]北京市海淀区妇幼保健院遗传室,北京100080 [2]安诺优达基因科技有限公司,北京100176

出　　处：《中国优生与遗传杂志》2015年第1期6-7,13,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的比较传统染色体核型分析技术和高通量测序技术在稽留流产遗传学分析中的应用,探讨高通量测序在临床遗传学分析中的价值。方法采用绒毛细胞培养及染色体核型分析检测稽留流产绒毛组织1530例;采用高通量测序和生物信息分析技术检测稽留流产绒毛组织例。比较两种方法的一致性及差异。结果 (1)传统染色体核型分析技术:1530例稽留流产绒毛培养成功率为93.5%(1431/1530);在1431例核型分析结果中,染色体正常占44.4%(636/1431);染色体数目异常占53.9%(771/1431)(其中含嵌合体29例);染色体结构异常占1.7%(24/1431)。(2)高通量测序技术:25例稽留流产绒毛样本全部检测成功,成功率100%;染色体正常占28%(7/25);染色体数目异常占56%(14/25)。染色体结构异常(染色体片段的缺失和重复)占16%(4/25)。(3)通过两种检测方法的比较,发现高通量测序技术具有更高的染色体结构异常检出率。结论高通量测序技术用于诊断稽留流产绒毛组织是可行的,与传统染色体核型分析技术相比成功率高,且对染色体结构异常的诊断有较高的敏感性,可以作为传统染色体核型分析技术的补充方法。Objective： To compare the application of the conventional chromosome karyotyping technology and the high- throughput sequencing technology in genetic analysis of spontaneous abortion and explore the value of the high-throughput sequencing technology in clinical genetics analysis. Methods： Villiform cell culture and karyotyping analysis were used to detect 1530 cases of missed abortion villus tissues; the high-throughput sequencing technology and bioinformatics analysis were used to detect 25 cases of spontaneous abortion villus tissues.The results of two methods were compared. Results： （ 1 ） Conventional karyotyping technology： Among 1431 successfully cultured villi samples, 636 cases of abnormal karyotypes were found, including 771 abnormal chromosome number （29 cases of chimeras） and 24 chromosome structural aberrations. （2） High- throughput sequencing technology： Among 25 successfully detected villi samples, the rate of abnormal karyotype was 100%, including 14 cases of abnormal chromosome number and 5 cases of chromosome structural aberrations （chromosome fragment missing and repetition） . （3） High-throughput sequencing technology was prior to detect chromosome structural abnormalities. Conclusions： High-throughput sequencing technology is feasible to the diagnosis of missed abortion villus tissue. Compared with the conventional chromosome karyotyping technology, it could improve the accuracy of diagnosis and sensitivity to chromosome structural aberrations, which could be a supplementary method of conventional karyotyping technology.

关 键 词：流产 绒毛膜绒毛 绒毛细胞培养 核型分析 高通量测序 

分 类 号：R714.21[医药卫生—妇产科学]