先天性心脏圆锥动脉干畸形患者Cx43基因突变的初步研究  

Preliminary Exploration of Cx43 Gene Mutation in Patients with Congenital Conotruncal Defects

作　　者：张陈[1] 黄国英[1] 杨毅[1] 

机构地区：[1]复旦大学附属儿科医院心血管中心,上海200032

出　　处：《复旦学报（医学版）》2003年第6期523-526,共4页Fudan University Journal of Medical Sciences

基　　金：教育部博士点基金(20010246018);上海市教委"曙光计划"(2000SG09)资助项目

摘　　要：目的 探讨先天性心脏圆锥动脉干畸形(CTD)患者细胞间隙连接蛋白43(Cx43)基因突变的发生情况。方法 采用聚合酶链反应-单链构象多态性(PCR-SSCP)分析结合DNA测序,对37例CTD、26例非CTD先心病、10例正常小儿进行了Cx43编码序列检测。结果 正常对照SSCP均表现为相同的带型。37例CTD中,仅1例法洛四联症(TOF)合并房间隔缺损(ASD)的患者出现了不同于正常对照的SSCP带型,经测序证实发生了717G→A碱基替换,但由于不引起所编码氨基酸的改变,考虑为沉默多态位点。其他CTD患者及26例非CTD先心病患者均未检测到Cx43编码序列的突变。结论 Cx43基因突变在CTD等先心病患者中可能并不常见。717G→A可能是一种新的单核苷酸多态位点。Purpose: To explore the Cx43 gene mutation in Chinese Han patients with congenital conotruncal defects (CTD). Methods: Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and direct sequencing were used to screen the whole Cx43 coding sequence in 37 patients with CTD, 26 patients with other heart defects and 10 normal children. Results: In 37 CTD patients, only 1 case was found to display variant banding pattern, which was confirmed as a substitution of 717G&rarrA by sequencing. But the resultant codon change dosen't lead to change of amino acid, indicating a silent polymorphism. No mutation of Cx43 gene was detected in the other CTD patients and 26 non-CTD patients. Conclusions: The Cx43 gene defects may not be frequent in patients with CTD and other congenital heart defects. The 717G&rarrA of Cx43 coding region indicates a new possible SNP.

关 键 词：先天性心脏圆锥动脉干畸形 CX43基因 基因突变 细胞间隙连接蛋白43 小儿 

分 类 号：R725.411[医药卫生—儿科] R394[医药卫生—临床医学]