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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 detect genomic chromosomal aberrations (CMA) in recurrent miscarried fetuses using microarray-comparative genomic hybridization (aCGH) to investigate the relationship between chromosomal micro-deformities and recurrent spontaneous abortion. Methods 23 fetuses with recurrent spontaneous abortion were screened for chromosome copy number abnormality by Agilent 8 × 60K DNA chip. Then, the Chinese human chromosome abnormality karyotype database was searched and the relationship between chromosomal copy number anomalies and recurrent spontaneous abortion was analyzed based on clinical data. Results The fetal karyotypes of 14 fetuses with recurrent spontaneous abortion were normal. The results of a CGH test showed that there were 9 cases of amplification or deletion of chromosomal DNA copy number in varying degrees, of which 2 chromosome aberrations were considered as normal polymorphisms. Chromosome segment variation may be associated with recurrent spontaneous abortion. Conclusions a CGH technique detects chromosome DNA copy number changes and provides molecular evidence for the clinical diagnosis of fetal recurrent spontaneous abortion caused by DNA copy number anomalies and provides guidance for continuing to track the next pregnancy.