早期自然流产绒毛组织SNP-array遗传学诊断研究  

Genetic diagnosis of chorionic villi from first-trimester miscarriages by SNP array

作　　者：罗春玉[1] 王艳[1] 杨吟秋[1] 徐青[1] 骆潇洁[1] 李璃[1] 孟露露[1] 马定远[1] 许争峰[1] 胡平[1] 

机构地区：[1]南京医科大学附属南京妇幼保健院产前诊断中心,南京210004

出　　处：《现代妇产科进展》2014年第8期639-642,共4页Progress in Obstetrics and Gynecology

基　　金：国家自然科学基金(No:81300495);江苏省卫生厅医学领军人才与创新团队项目(No:LJ201109);江苏省临床医学科技专项(No:BL2012039);江苏省卫生厅科学项目(No:F201314)

摘　　要：目的:初步探讨单核苷酸多态性阵列(SNP-array)在早期流产绒毛遗传学诊断中的临床应用价值。方法:选取临床诊断为早期自然流产的82例患者,刮宫术后获取绒毛组织,行常规绒毛细胞培养G显带核型分析,并同时提取绒毛组织DNA进行SNP-array检测,比较两者的检测结果。结果:常规绒毛细胞培养G显带核型诊断成功率87.8%(72/82),SNP-array诊断成功率为100%(82/82)。G显带分析获得结果 72例,核型正常35例,核型异常37例,异常率51.4%(37/72)。82例SNP-array分析结果中,核型正常30例,核型异常52例,异常率63.4%(52/82)。G显带分析失败的10例标本中,SNP-array检出6例异常;G显带与SNP-array结果不符的12例中,包括2例全基因组单亲二倍体(uniparental disomy,UPD),2例是部分染色体UPD。结论:SNP-array技术具有高准确性、高通量、快速检测等优点,在自然流产绒毛遗传学分析中具有较强的临床应用价值。Objective：To investigate the clinical value of single nucleotide polymorphism array （ SNP-array） in the genetic diagnosis of chorionic villi from first-trimester miscarriages. Methods：A cohort of 82 patients with first-trimester miscarriage undergoing dilation and curettage were enrolled in this study. Karyotyping by standard G-banding analysis was carried out on the cultured chorionic villi cell, while SNP-array analysis was performed on genomic DNA extracted from chorionic villi. Results：72 of 82 cases were successfully analyzed by G-banding karyotyping and the remaining 10 cases were failed,while SNP-array analysis succeeded in all of the 82 cases. G-banding detected 35 normal and 37 abnormal karyotypes. SNP-array detected 30 cases of normal and 52 abnormal karyotypes. SNP-array revealed 6 abnormal chromosomes in 10 cases without G-banding analyses. Analyses from 12 cases by G-banding were discordant with those by SNP-array. SNP-array detected 4 cases of uniparental disomies （ UPD） . Conclusion：SNP-array could be used for genetic diagnosis of the first-trimester miscarriages,due to its high-accuracy,high-throughput and rapid-analysis.

关 键 词：早期流产 单核苷酸多态性芯片 核型分析 绒毛膜绒毛 单亲二倍体 

分 类 号：R714.53[医药卫生—妇产科学]