单核苷酸多态性微阵列技术在自然流产遗传学分析中的应用  

Application of single nucleotide polymorphism array in genetic analysis of patients with spontaneous miscarriage

作　　者：怀磊[1] 冷建杭[1] 郭钦贤[1] 孙博[1] 

机构地区：[1]杭州市第一人民医院中心实验室,杭州310006

出　　处：《中国优生与遗传杂志》2017年第8期13-15,共3页Chinese Journal of Birth Health & Heredity

基　　金：浙江省自然科学基金(LQ17H310001);杭州市科技发展计划(20140633B05);南京医科大学科技发展基金(2013NJMU231)

摘　　要：目的探讨单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP array)技术在自然流产遗传学分析中的应用价值。方法选取2016年1月至2017年2月在杭州市第一人民医院就诊的自然流产患者43例,对流产绒毛或胎儿组织应用SNP-array技术进行检测,同时选取15例人工流产妇女作为对照组。结果 43例自然流产样本成功检测43例,成功率为100%,发现染色体异常16例,异常检出率为37.2%(16/43),其中染色体数目异常12例,结构异常4例。对照组15例人工流产样本检测全部成功,未发现染色体异常。结论 SNP-array技术可以作为自然流产物遗传学分析的方法之一,可为患者的病因诊断与再生育风险评估提供指导,具有较好的临床应用价值。Objective：To investigate clinical value of single nucleotide polymorphism array（SNP-array）technique in genetic analysis of spontaneous miscarriage. Methods：From January 2016 to February 2017,the 43 patients with spontaneous miscarriage in Hangzhou First People′s Hospital were enrolled in this study. Meanwhile 15 cases with induced abortion were taken as control group. All aborted tissues were detected with SNP-array. Results：SNP-array analysis was successfully performed in all 43 cases with spontaneous miscarriage. The overall rate of detection was 100%. 16 spontaneous abortion samples with chromosome abnormality were successfully detected by SNP-array,including 12 specimens with chromosome aneupoidies,4 specimens with chromosomal structural abnormalities. The positive rate of chromosomal abnormalities was 37.2%（16/43）. 15 induced abortion samples in control group were successfully detected,and none was found chromosomal abnormality. Conclusion： SNP-array technique could be a useful genetic analysis method for spontaneous miscarriage,and the identification of the cause of spontaneous miscarriage can facilitate estimation of recurrence risks for future pregnancies.

关 键 词：自然流产 单核苷酸多态性微阵列 染色体异常 绒毛膜绒毛 

分 类 号：R440[医药卫生—诊断学] R714.21[医药卫生—临床医学]