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目的对山东地区126例先天性心脏病患者进行CFC1基因突变筛查,阐明CFC1基因突变类型和特点,为先天性心脏病患者的基因诊断和基因治疗提供理论依据。方法从126例先天性心脏病患者外周血白细胞中提取基因组DNA,进行PCR扩增CFC1第2和3外显子,对PCR产物进行直接测序分析。结果在126例先天性心脏病患者患儿的CFC1基因第2、3外显子测序中,均未发现基因突变。结论 CFC1基因突变率低,可能不是山东地区先天性心脏病患儿的主要致病基因。
Objective To screen 126 patients with congenital heart disease in Shandong Province for CFC1 gene mutation and elucidate the types and characteristics of CFC1 gene mutation and provide theoretical basis for gene diagnosis and gene therapy in patients with congenital heart disease. Methods Genomic DNA was extracted from peripheral blood leucocytes of 126 patients with congenital heart disease. PCR was used to amplify exons 2 and 3 of CFC1, and the PCR products were directly sequenced. Results No gene mutation was found in exon 2 and exon 2 of CFC1 gene in 126 children with congenital heart disease. Conclusions The low mutation rate of CFC1 gene may not be the main causative gene in children with congenital heart disease in Shandong Province.