应用微阵列一比较基因组杂交检测复发性流产的原因

Detect the reason of recurrent abortion by microarray comparative genomic hybridization

目的应用微阵列一比较基因组杂交技术(a CGH),对复发性流产胎儿组织进行基因组染色体微小畸形(CMA)检查,探讨染色体微小畸形与复发性流产的关系。方法对23例复发性流产胎儿运用Agilent 8×60K DNA芯片筛查染色体拷贝数异常情况,之后查询中国人类染色体异常核型目录数据库,并结合临床资料分析染色体拷贝数异常与复发性流产的关系。结果 14例复发性流产胎儿染色体核型正常;a CGH检测结果表明有9例患者存在不同程度的染色体DNA拷贝数的扩增或缺失,其中2例染色体变异被认为是正常多态性;另外7例染色体区段的变异可能与复发性流产相关。结论 a CGH技术检测染色体的DNA拷贝数的变化,为由DNA拷贝数异常引发的胎儿复发性流产临床诊断提供分子依据,同时为继续追踪下次怀孕提供指导意见。

Objective：To use microarray comparative genomic hybridization（a CGH）to find the chromosome microarray abnormality（CMA） in recurrent abortion fetus,to study the relation between CMA and recurrent abortion. Methods：23 recurrent abortion fetus samples were recruited to screen the chromosomal abnormalities by using Agilent 8 × 60 K DNA chips,then the relationship between CMA and recurrent abortion was analyzed through combining the human chromosome abnormal karyotype database and the clinical datas of patients selected. Results：14 fetus of recurrent abortion have no chromosomal abnormality identified by a CGH. Using whole-genome a CGH,9 out of 23 cases were discovered chromosomal DNA copy number variations（amplification or deletion）in varying degrees,in which 2 cases were considered to be normal polymorphism and the other two cases were speculated to associate with recurrent abortion. Conclusion：a CGH,which is used to detect the DNA copy number changes of recurrent abortion,provide molecular basis for clinical diagnosis of recurrent abortion caused by abnormal DNA copy number.At the same time,give advice to follow up next pregnancy.