作　　者： ; ;

机构地区： 广州医科大学

出　　处： 《中国优生与遗传杂志》 2018年第7期17-18,37,共3页

摘　　要： 目的探讨染色体微阵列分析技术在检测早期自然流产胚胎的遗传学变异中的应用价值。方法收集98例早孕期自然流产绒毛标本,使用染色体微阵列分析技术对98例绒毛标本进行检测。统计其异常检出率及异常类型,同时与传统染色体核型分析对比,寻找染色体微阵列分析技术在早期自然流产绒毛遗传学病因分析中的优越性。结果染色体微阵列分析技术成功获得结果98例,检测成功率100%。染色体异常检出率为65.3%(64/98)。64例异常中有58例为染色体数目异常,6例为染色体结构异常。6例染色体结构异常中有4例为致病性异常,2例为临床意义未明结果。结论在检测早期自然流产胚胎的遗传学变异时,与传统染色体核型分析相比较,染色体微阵列分析技术检测成功率更高,实验周期更短,分辨率更高。能够提供更多的遗传学变异信息。 Objective：To investigate the application values of Chromosome Microarray Analysis which was applied to genetic tests of patients with early spontaneous abortion. Methods：98 samples of chorionic villus from early spontaneous abortion were collected to take genetic tests using Chromosome Microarray Analysis. The abnormal detection rate and abnormal type are calculated. Meanwhile comparing Chromosome Microarray Analysis with karyotyping analysis and detecting the advantages of Chromosome Microarray Analysis in genetic tests of patients with early spontaneous abortion. Results：All of the 98 samples were analyzed successfully using Chromosome Microarray Analysis. The abnormal rate was 65.3%（64/98）. Of all the 64 abnormal results,58 results were numerical abnormalities of chromosomes,the other 6 results were structural chromosome aberrations. The six structural chromosome aberrations include four pathogenic results and two various of uncertain significant. Conclusion：Compared with karyotyping analysis,the Chromosome Microarray Analysis has a higher success rate,shorter experimental period,higher resolution and can offer more genetic abnormal information in genetic tests of patients with early spontaneous abortion.

关 键 词： 自然流产 绒毛 染色体微阵列分析

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