FGF16在中国单纯性室间隔缺损患儿中的突变研究  

Study on the mutation of fibroblast growth factor 16(FGF16)in Chinese children with simple ventricular septal defect.

作　　者：薛雪[1] 王巾[1] 邓晓鹏[1] 李辉[1] 

机构地区：[1]中国医科大学附属盛京医院妇产科,沈阳110004

出　　处：《中国优生与遗传杂志》2013年第3期18-19,共2页Chinese Journal of Birth Health & Heredity

基　　金：教育部高等学校博士学科点专项科研基金;项目号:20092104110011;辽宁省科学技术计划;项目号:2011225017

摘　　要：目的分析FGF16基因在中国单纯性室间隔缺损(ventricular septal defect,VSD)患儿外周血中的突变情况,探讨FGF16基因突变与单纯性VSD发生机制的关系。方法采用PCR结合DNA测序及软件比对分析的方法对100例患有单纯性VSD的患儿外周血进行FGF16基因编码序列突变筛查。结果 100例中国单纯性VSD患儿外周血中FGF16基因2个外显子PCR产物经DNA测序与软件比对分析后未发现突变。结论 FGF16基因突变和中国单纯性室间隔缺损的发病可能不相关。Objective：We investigated the mutation of FGF16 gene in peripheral blood（BP） from Chinese children with Simple Ventricular Septal defect（VSD） so as to clear relationship of the mutation and simple VSD.Methods：We examine the mutations of coding sequence of FGF16 gene in 100 peripheral blood from Chinese children with Simple VSD byPCR combined with DNA sequencing and comparison of analysis with DNAstar software.Results：No mutation was detected in 2 exons of FGF16 gene in 100peripheral blood from Chinese children with Simple VSD by PCR combined with DNA sequencing and comparison of analysis with DNAstar software.Conclusion：Mutations in coding region of FGF16 gene may be not relevant to Chinese Simple VSD.

关 键 词：FGF16基因 室间隔缺损 突变 

分 类 号：R725.4[医药卫生—儿科]