【摘要】 目的探讨GATA4基因变异与房间隔缺损遗传的相关性.方法采集云南省心血管病医院心脏外科2个房间隔缺损(ASD)家系,共4名ASD患者和11名成员,选择GATA4基因编码区内4个可引起氨基酸改变的cSNP和GATA4基因附近的11个STR位点以及5个GATA4基因内STR位点,进行PCR和DNA测序分析.结果 D8S258、D8S552两个位点存在多态性,Q19E(rs1139240)、L39V(rs1139241)、P66A(rs1139244)和G377S(rs3729856)位点未发现多态性及突变.结论 D8S258、D8S552在本文人群中检测到多态但未检测到突变,4个cSNP位点未检测到突变。更多还原

【Abstract】 Objective To study the relativity between GATA4 gene variation and ASD(atrial septal defec)t heretidy.Methods Two kindreds with atrial septal defect(ASD) including 4 ASD patients and 11 members were selected by the department of cardiac surgery of the cardiovascular disease hospital in Yunnan Province.4 cSNPs in the GATA gene encoding zone which can cause amino acid to change,11 STR loci near the GATA4 genes and 5 STR loci inside the GATA4 gene were selected to carry out PCR and DNA sequencing analysis.Results Polymorphisms existed in the two loci of D8S258 and D8S552.No polymorphisms and mutation were found at the loci of Q19E(rs1139240),L39V(rs1139241),P66A(rs1139244) and G377S(rs3729856).Conclusions Polymorphisms but not multation exist at the loci of D8S258 and D8S552 in the selected members in the two kindreds with ASD.No multation exists at the 4 cSNP loci in the selected members in the two kindreds with ASD.更多还原