室间隔缺损患者ISL1基因突变的研究  

Mutation of ISL1 Gene in Patients with Ventricular Septal Defect

作　　者：程志[1] 王彬彬[2] 马旭[2] 黄慧哲[1] 

机构地区：[1]重庆医科大学基础医学院,重庆市400016 [2]国家人口计生委科学技术研究所,北京市100081

出　　处：《医学分子生物学杂志》2013年第4期203-206,共4页Journal of Medical Molecular Biology

基　　金：资助项目：国家自然科学基金（No.31171388）

摘　　要：目的在中国室间隔缺损患者中寻找ISL1基因致病突变，探讨其与室间隔缺损发生之间的关系。方法采用PCR直接测序技术对195例室间隔缺损患者ISL1基因的主要编码区以及外显子一内含子交界区进行基因突变分析。结果在患者中发现3个已知的单核苷酸多态性位点rs2288468、rs2303750和rs2303751．没有发现新的基因突变。3个单核苷酸多态性位点的基因型频率和等位基因频率在室间隔缺损患者和对照组之间无统计学差异。结论1SL1基因突变在室间隔缺损的发病机制中可能不占主导地位。Objective To identify new causative mutation of ISL1 gene in Chinese patients with ventricular septal defect and to investigate the relationship between 1SL1 gene mutation and the oc- currence of ventricular septal defect. Methods The sequences of most exons and their associated introns of ISL1 gene were determined in 195 patients by direct PCR sequencing. Results Three known single nucleotide polymorphisms rs2288468, rs2303750 and rs2303751 were detected. However, new mutations were not found. No significant difference was noted in the geno- type and allele frequencies of these three single nucleotide polymorphisms between the patient and control groups. Conclusions Mutation of 1SL1 gene may not be a common genetic etiologic factor for Chinese ventricular septal defect patients.

关 键 词：室间隔缺损 ISL1基因 基因突变 

分 类 号：R725.4[医药卫生—儿科]