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背景:ACTC1是先天性心脏病的候选基因,且与人类先天性心脏病房间隔缺损有关。目的:对110个先天性心脏病核心家系中ACTC1基因进行突变筛查。方法:在110个先天性心脏病核心家系与300例无报道有心脏畸形的正常人之间进行对照试验。使用5对引物将ACTC1基因的6个编码区片段进行PCR体外扩增,从PCR产物中筛查基因突变。结果与结论:在ACTC1基因的第五外显子下游5’端剪切位点第3个碱基发现了1个G-A的全新的突变。这个突变存在于1个患有单纯性室间隔缺损的女孩和她30岁的没有报道过心脏畸形的父亲,且该突变没有在300例正常对照组中筛出。提示该突变可能与人类先天性心脏病室间隔缺损有关。
BACKGROUND: ACTC1 is a candidate gene for congenital heart disease and is associated with atrial septal defects in human congenital heart disease. OBJECTIVE: To screen mutations of ACTC1 gene in 110 nuclear families with congenital heart disease. METHODS: A controlled trial was conducted between 110 nuclear family members of congenital heart disease and 300 normal subjects who reported no cardiac malformations. Five pairs of primers were used to amplify the 6 coding region fragments of ACTC1 gene in vitro and the gene mutations were screened from PCR products. RESULTS AND CONCLUSION: A novel G-A mutation was found at the third base of the 5 ’end of the fifth exon of ACTC1 gene. This mutation occurs in a girl with a simple ventricular septal defect and in her 30-year-old father who did not report a cardiac malformation and the mutation was not screened out in 300 normal controls. Suggesting that the mutation may be related to human congenital heart disease ventricular septal defect.