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目的:RNF41是一种E3泛素连接酶,具有泛素连接酶活性,在心脏的发育过程和功能形成过程中起到关键作用。本研究旨在探讨RNF41基因多态性与中国蒙族先天性心脏病发病易感性之间的关系。方法:采用PCR结合直接测序法检测119例先天性心脏病患儿(病例组)和108例非先心病患儿(对照组)的RNF41基因位点rs116861857的基因型频率和等位基因频
Purpose: RNF41 is an E3 ubiquitin ligase that has ubiquitin ligase activity and plays a key role in the development of the heart and its function. The aim of this study was to investigate the relationship between RNF41 gene polymorphisms and susceptibility to congenital heart disease in China. Methods: The genotype frequency and allele frequency of rs116861857 in 119 children with congenital heart disease (case group) and 108 children without congenital heart disease (control group) were detected by PCR and direct sequencing.