山东地区先天性心脏病患者CFC1基因突变研究

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。

A study on the relationship between CFC1 gene mutations and congenital heart disease in Shandong Province.

Objective： To screen mutations in CFC1 gene in 126 patients with congenital heart disease （CHD） and characterize the features of CFC1 mutations in Shandong Province in China, in order to provide some evidence for gene diagnosis and gene treatment of CHD. Methods- Blood samples were collected from 126 CHD patients in Shandong Province and genomic DNA was extracted from peripheral blood leukocytes. Exon 2 and exon 3 of CFC1 gene were analyzed using PCR and direct sequencing. Results： Analysis of CFC1 in 126 CHD patients revealed no mutations or variations was demonstrated in exon 2 and exon 3 of CFC1 gene. Conclusion： CFC1 mutation rate is very low, and may not serve as the main cause of CHD in Shandong Province.