汉族先天性房室间隔畸形患者GATA-4基因的突变分析  

Association between GATA-4 mutations and congenital cardiac septal defects in Han Chinese patients

作　　者：陈名武[1] 庞玉生[1] 郭颖[3] 刘炳丽[5] 沈捷[4] 宋怀东[5] 刘唐威 

机构地区：[1]广西医科大学第一附属医院儿科,广西南宁530021 [2]广西心血管病研究所 [3]上海交通大学医学院附属上海儿童医学中心 [4]上海交通大学医学院附属儿童医院 [5]上海交通大学医学院附属瑞金医院医学基因组学国家重点实验室

出　　处：《中华心血管病杂志》2009年第5期409-412,共4页Chinese Journal of Cardiology

摘　　要：目的探讨先天性房室间隔畸形患者GATA-4基因突变情况以及其基因型和表现型之间的关系。方法选择50例汉族先天性房室间隔畸形患者和100名汉族健康者，用聚合酶链反应方法扩增GATA-4基因6个外显子编码区和邻近序列，聚合酶链反应产物纯化后以自动测序仪测序，然后与NCBI数据库中GATA-4基因的序列进行比较。结果在汉族先天性房室间隔畸形患者中发现GATA-4基因2个新的杂合子突变，分别位于第2号外显子的His28Tyr和位于第7号外显子的HiM36Tyr。结论转录因子GATA-4基因突变可能与汉族先天性房室间隔畸形的发生有关。Objective To elucidate the association between GATA-4 gene mutations and congenital cardiac septal defects in Han Chinese patients. Methods Fifty Han Chinese patients with congenital cardiac septal defects and 100 normal subjects with the same ethnical background were studied. Total six exons and the intron-exon boundaries of GATA-4 were amplified by the polymerase chain reaction. The polymerase chain reaction products were purified and directly sequenced with automatic sequencer. Results Two novel heterozygous mutations were discovered in the GATA-4 gene of patients with congenital cardiac septal defects, His28Tyr in exon 2 and His436Tyr in exon 7 respectively, which were absent in the control population and not reported in the SNP database （http ：//www. nebi. nlm. nih. gov/SNP）. Conclusion Our finding suggests that the mutations in the transcription factor GATA-4 may be related to congenital cardiac septal defects in Han Chinese patients.

关 键 词：心脏缺损 先天性 突变 转录因子 

分 类 号：R686[医药卫生—骨科学]