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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 genomic copy number variation (CNVs) in children with congenital heart disease (CHD) using high-resolution chip comparative genomic hybridization (aCGH) to explore the relationship between chromosomal copy number anomalies and CHD. Methods Chromosomal karyotype analysis was performed in 17 patients with congenital heart disease. Agi-lent 8 × 60K DNA microarray was used to screen chromosomal copy number abnormalities. After that, the Chinese human chromosome abnormalities karyotype database was searched and analyzed according to clinical data Abnormal and congenital heart disease. Results The karyotypes of 17 patients with CHD were normal. The aCGH test results showed that there were 6 patients with different degrees of amplification or deletion of chromosomal DNA copy number. Among them, 4 cases of chromosomal aberrations were considered as normal polymorphisms. The other 2 chromosomes Segmental variation may be associated with congenital heart disease. Conclusions The aCGH technique detects DNA copy number changes in patients with CHD with normal karyotype and provides a molecular basis for the clinical diagnosis of CHD caused by DNA copy number abnormality.