高通量测序技术对自然流产的遗传学价值  

Genetical Value of Spontaneous Abortion by High-through Sequencing Technology

作　　者：杨小风[1] 郭婷婷[1] 归婧[1] 王雅莉[1] 

机构地区：[1]郑州大学附属郑州中心医院,郑州450007

出　　处：《河南医学高等专科学校学报》2017年第2期110-113,共4页Journal of Henan Medical College

基　　金：基金项目:自然流产组织染色体检测的临床研究(20140451)

摘　　要：目的观察高通量测序技术检测自然流产组织及遗传因素对自然流产的影响。方法选择91例自然流产患者,孕6~29周。取流产组织(绒毛或胚胎组织),提取组织DNA,采用高通量测序技术对样本基因组信息进行分析解读,并与传统的染色体核型分析进行对照,统计染色体异常的类型及所占比率。结果 91例自然流产患者绒毛或胚胎组织处理后经高通量基因测序异常33例,染色体数目异常24例,100 Kb以上片段缺失/重复9例,其中6例为多态覆盖区域;传统染色体核型成功分析89例,高通量基因测序结果与其中82例结果一致,符合率为92.00%(82/89)。结论与染色体核型分析技术相比,高通量测序技术对复发性流产患者流产组织的遗传学检查具有更高的敏感性、高效性、特异性,具有临床实际应用价值。Objective To perform high throughput sequencing diagnosis of chromosome by detecting natural abortion vil lus, explore the effects of genetic factors on abortion and provide clinical guidance for next pregnancy. Methods 91 patients with spontaneous abortion, gestational age among 6- 29 weekswere chosen, follow the principle of informed consent, take abortion group （ villi and fetal tissues ） , ex-tract DNA, using high-through sequencing technologies to analyze samples of genome information inter-pretation. And the authors carried on the contrast analysis with traditional karyotype analysis, statistical type and proportion of chromosomal abnormalities. Results In 33 cases out of 91 spontaneous abortion or embryonic tissue vil lus, high-through sequencing technology revealed abnormalities, 24 cases of abnor-mal number of chromosomes, 100Kb above fragment deletion / duplication nine cases, including six ca-ses of multi-state coverage area ; the successful analysis of the traditional karyotype 89 c a s e s , high- through gene sequencing results were consistent with the results of 82 cases in which, in line with the rate of 92% （ 82/89 ） . Conclusion With the traditional “gold s tandard’’ -karyotype analysis technology, compared to the high-through sequencing technology has higher sensitivity, efficiency, specificity and has clinical application value.

关 键 词：自然流产 绒毛 高通量测序 染色体异常 

分 类 号：R719.3[医药卫生—妇产科学]