摘要目的 应用微阵列比较基因组杂交技术检测43例自然流产和死胎的全基因组拷贝数变异(copy number variations,CNV),探讨该技术的应用价值.方法 采用Agilent 4×44K定制芯片和Affymetrix Cytoscan 750K芯片对43例原因不明自然流产的绒毛和死胎的皮肤组织进行基因组CNV检测,用相应软件对检测结果进行分析,将发现的CNS与国际基因组拷贝数多态性数据库进行比对,剔除常见的多态性CNV,并结合国际病理性CNV数据库DECIPHER、ISCA、OMIM进行核查,同时与既往文献进行比对,分析其是否具有致病性.对其中2例CNS补充夫妻双方的基因芯片检测,以明确CNV的来源.结果 全部43例标本均成功获得芯片检测结果,成功率为100％.共检测出异常32例(74.4％),其中非整倍体26例(4例合并CNV),单纯性CNV 6例.结论 微阵列比较基因组杂交技术可用于检测流产、死胎的组织标本,为难以进行细胞培养及核型分析的流产绒毛及死胎标本提供了一种快速有效的检测方法,为不明原因的自然流产及死胎的病因学诊断提供一种更好的遗传学手段.

abstractsObjective To assess the value of array-based comparative genomic hybridization (arrayCGH) for analyzing tissues derived from spontaneous abortion and stillbirth.Methods Agilent Human Genome CGH Microarray 4 × 44K chip and Affymetrix Cytoscan 750K Array were utilized to detect genomewide copy number variations (CNV) in 43 fetuses with spontaneous abortion and stillbirth.All identified CNV were analyzed with references from Database of Genomic variants (DGV),database of DECIPHER,ISCA and OMIM,as well as comprehensive literature review to determine whether the identified CNV were pathogenic.Parental DNA of two cases was also analyzed with the same arrays for pathogenic or unknown significant CNVs.Results All of the 43 specimens were successfully analyzed.Clinically significant chromosomal aberrations were identified in 32 (74.4％) of the samples,which included 26 aneuploidies and 10 pathogenic CNV.Conclusion Array-CGH is a fast and effective method for analyzing tissues derived from spontaneous abortions and stillbirths which may be difficult to culture for karyotype analysis.