先天性心脏病与RAS-MAPK系统基因的TagSNP关联性  

An Initial Analysis of the Correlation between Congenital Heart Disease and TagSNP in RAS-MAPK System

作　　者：夏丽滨 石鑫[2] 沈艳 骆志玲 XIA Li-bing;SHI Xin;SHEN Yan;LUO Zhi-ling(Dept.of Obstetrics,The Second Affiliated Hospital of Kunming Medical University,Kunming Yunnan 650101;Dept.of Urology,The Second Affiliated Hospital of Kunming Medical University,Kunming Yunnan 650101;Dept.of Ultrasound, Fuwai Yunnan Cardiovascular Hospital,Kunming Yunnan 650000,China)

机构地区：[1]昆明医科大学第二附属医院产科,云南昆明650101 [2]昆明医科大学第二附属医院泌尿外科,云南昆明650101 [3]云南省阜外心血管病医院超声科,云南昆明650000

出　　处：《昆明医科大学学报》2018年第12期16-22,共7页Journal of Kunming Medical University

基　　金：国家自然科学基金资助项目(81660052);云南省应用基础研究基金资助项目(2017FE456)

摘　　要：目的探讨先心病与RAS-MAPK系统基因的Tag SNP关联性。方法选取223例非综合症先心病患者与273例健康对照为研究对象,对属于RAS-MAPK系统的3个基因(MAP2K2,BRAF,RAF1)及在综合症先心病家系中发现的TBX20基因的22个Tag SNPs进行关联分析。结果 RAS-MAPK系统基因的Tag SNPs均不与非综合症先心病关联(P>0.05)。结论家族性病例的致病基因突变可能并不是非综合症先心病发病的主要遗传影响因素。Objective To find the relationship between genetic mutation of RAS-MAPK system and non-syndromic congenital heart disease.Methods This study chose 223 cases of non-syndromic congenital heart diseases and 273 cases of healthy people as study objects,and analyzed correlation among three genes(MAP2K2,BRAF,RAF1)which belong to RAS-MAPK system and 22 TagSNPs of TBX20 which were found in syndromic congenital heart disease families.Results Those TagSNPs are unlikely to have relevance to non-syndromic congenital heart diseases(P >0.05).Conclusion The morbigenous genetic mutations found in familial diseases are not likely to be the main factors of the occurrence of non-syndromic congenital heart diseases.

关 键 词：先天性心脏病 RAS-MAPK通路 TagSNP 关联分析 

分 类 号：R541[医药卫生—心血管疾病]