法洛四联症患者ZFPM2/FOG2基因编码区突变检测  

Detection of mutation in ZFPM2/FOG2 gene coding region in patients of Tetralogy of Fallot

作　　者：赵明[1] 朱鲜阳[2] 田小利[3] 王琦光[2] 杨帆[3] 吕蓓 王红[5] 董洁[3] 郑谷燕[3] 

机构地区：[1]辽宁医学院研究生院,锦州市121001 [2]沈阳军区总医院先心内科 [3]北京大学分子生物学研究所人类群体遗传学研究室 [4]青岛市妇女儿童医院心脏中心 [5]辽宁医学院研究生院沈阳军区总医院先心内科,锦州市121001

出　　处：《中国心血管病研究》2012年第6期422-424,479,共4页Chinese Journal of Cardiovascular Research

摘　　要：目的 探讨心脏正常发育相关基因改变导致法洛四联症（TOF）的发生机制.方法 通过聚合酶链反应,并结合DNA测序分析方法检测散发106例TOF患者ZFPM2/FOG2基因编码区的突变或单核苷酸多态性位点.结果 在16例不同的患者ZFPM2/FOG2基因的外显子2、6、8上,分别发现多个位点基因改变,并将新发现的基因改变位点在110名健康人中进行验证,证实其改变位点均为突变位点.结论 ZFPM2/FOG2基因新位点的突变可能通过不同的机制进一步导致转录蛋白的改变,推测是法洛四联症发病的重要遗传基础.Objective To study the change of heart normal development related genes resulting in Tetral- ogy of Fallot. Methods The polymerase chain reaction and DNA sequencing analysis method were used to detect ZFPM2/FOG2 genetic code of the mutation or a single nucleotide polymorphisms （SNPS） in sporadic 106 cases of patients with Tetralogy of Fallot. Results The results showed that in 16 cases of patients the ZFPM2/FOG2 gene changed in exon 2, 6, 8 and the new gene change sites were proved in 110 healthy persons. And those sites were proved as mutations. Conclusion FOG2 gene mutations may through the new site of different mechanisms of further led to the change of transcription protein, presumably, the onset of Tetralogy of Fallot important genetic basis.

关 键 词：心脏病 先天性 法洛四联症 ZFPM2/FOG2基因 基因突变 

分 类 号：R541.1[医药卫生—心血管疾病]