一个新的ACTC1基因5’端剪切位点突变可能在先天性心脏病室间隔缺损发病中起重要作用(英文)

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。

A novel 5' splice site mutation in ACTC1 gene may play an important role in congenital ventricular septal defect

BACKGROUND: As a candidate gene of congenital heart disease, ACTC1 gene is related to congenital atrial septal defect in humans. OBJECTIVE: To perform a mutation screen of ACTC1 gene in 110 nuclear families of congenital heart disease. METHODS: A case-control study was conducted based on 110 nuclear families of congenital heart disease and 300 normal human beings with no reported cardiac malformation. Six fragments in the coding region of ACTC1 gene was amplified by PCR in vitro using five primers pairs. PCR products were screened for gene mutations. RESULTS AND CONCLUSION: A novel G-to-A variant was found at the third nucleotide of the intron downstream from exon 5. This mutation existed in a 5-year-old female with an isolated ventricular septal defect and her 30-year-old father, who had no reported cardiac anomalies. This mutation was not detected in 300 normal controls. These findings indicate that the mutation may be related with congenital ventricular septal defects in humans.