CAJ | 학술논문

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.
배경:ACTC1 시선천성심장병적후선기인,차여인류선천성심장병방간격결손유관.목적:대110 개선천성심장병핵심가계중ACTC1 기인진행돌변사사.방법:재110 개선천성심장병핵심가계여300 례무보도유심장기형적정상인지간진행대조시험.사용5 대인물장ACTC1 기인적6 개편마구편단진행PCR 체외확증,종PCR산물중사사기인돌변.결과여결론:재ACTC1 기인적제오외현자하유5'단전절위점제3 개감기발현료1 개G-A 적전신적돌변.저개돌변존재우1 개환유단순성실간격결손적녀해화저30 세적몰유보도과심장기형적부친,차해돌변몰유재300 례정상대조조중사출.제시해돌변가능여인류선천성심장병실간격결손유관.
BACKGROUND: As a candidate gene of congenital heart disease, ACTC1 gene is related to congenital atrial septal defect inhumans.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 normalhuman beings with no reported cardiac malformation. Six fragments in the coding region of ACTC1 gene was amplified by PCR invitro 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 noreported cardiac anomalies. This mutation was not detected in 300 normal controls. These findings indicate that the mutation maybe related with congenital ventricular septal defects in humans.