应用Array-based CGH技术检测先天性心脏病染色体异常的研究

Study on chromosomal abnormality of congenital heart defect by array-based CGH

目的应用高分辨芯片比较基因组杂交技术(aCGH),对先天性心脏病(先心病)患儿进行基因组拷贝数变异(CNVs)筛查,探讨染色体拷贝数异常与先心病的关系。方法对17例先心病患者进行染色体核型分析,再运用Agi-lent 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先心病关系。结果 17例先心病患者染色体核型正常;aCGH检测结果表明有6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4例染色体变异被认为是正常多态性;另外2例染色体区段的变异可能与先心病相关。结论 aCGH技术检测染色体核型正常的先心病患者DNA拷贝数的变化,为由DNA拷贝数异常引发先心病的临床诊断提供分子依据。

Objective：To screen the genomic copy number variations（CNVs） of the children with congenital heart defect（CHD） and explore the relationship between chromosomal abnormalities and CHD by high-resolution array-based comparative genomic hybridization（aCGH）.Methods：Seventeen children with diverse forms of CHD were recuited to detect karyotype,and to screen the chromosomal abnormalities by using Agilent 8×60K chips,then the relationship between CNVs and CHD was analyzed through combining the human chromosome abnormal karyotype database and the clinical datas of patiens selected.Results：Seventeen children of CHD who had no chromosomal abnormality identified by conventional cytogenetic testing.Using whole-genome aCGH,six out of seventeen cases were discovered chromosomal DNA copy number variations（amplification or deletion） in varying degrees,in which four cases were considered to be normal polymorphism and the other two cases were speculated to associate with CHD.Conclusion：aCGH,which is used to detect the DNA copy number changes of CHD with normal karyotype,provide molecular basis for clinical diagnosis of CHD caused by abnormal DNA copy number.