同卵双胎心脏畸形差异表达基因的分析  

Analysis of differential expression gene between monozygotical twins with cardiac anomaly

作　　者：吕小东[1] 刘迎龙[1] 赵勇[1] 刘宗正 

机构地区：[1]中国医学科学院心血管病研究所中国协和医科大学阜外心血管病医院先心病研究室,北京100037 [2]Cardiac GeneUnit,Department of Laboratory Medicineand Pathobiology,University of Toronto Canada

出　　处：《中华心血管病杂志》2004年第9期826-828,共3页Chinese Journal of Cardiology

基　　金：国家自然科学基金项目 (3 0 2 0 0 2 79)

摘　　要：目的　寻找单卵双胎其一患房间隔缺损、肺动脉瓣狭窄 ,另一为正常儿童之间的差异表达基因。方法　依据该单卵双胎儿童的白细胞RNA合成cDNA探针 ,差示筛选 8～ 1 0周龄胎儿心脏cDNA文库 ,测定各组克隆的序列 ,结果与GenBank/EMBL/DDBJ核酸数据库进行同源性比较 ,所获ESTs进行功能分类 ,并比较患儿与正常儿童表达基因谱的差异。结果　获得在正常儿童表达高于患病儿童 ,或正常儿童表达而患病儿童不表达的已知基因有 34个 ,新ESTs有 5个 ;患病儿童表达高于正常儿童 ,或患病儿童表达而正常儿童不表达的基因有 4 1个 ,新ESTs有 7个。结论　一患先天性心脏病另一正常之单卵双胎儿童进行差示筛选 ,是寻找先天性心脏病相关基因和与心脏发育相关基因的有效方法。本研究发现了一些与先天性房间隔缺损、肺动脉瓣狭窄发生相关的ESTs。Objective To analyze the difference of expression gene between monozygotical twins, of which one with congenital heart disease (CHD) such as atrium septal defect and pulmonary stenosis, and the other is normal. Methods The differential screening of 810 weeks fetal heart cDNA library was performed by cDNA probes synthesized by RNA of white cells of the monozygotical twins. Single pass sequencing of selected cDNA clone was determined. The results were compared with the nucleic acid database in terms of GenBank/EMBL/DDBJ. Corresponding ESTs of 810 weeks fetal heart cDNA library was generated and blasted. The difference of expression gene between twins was then compared. Results Thirty four known gene and 5 new ESTs were identified, in which the expression of normal children was higher than that of children with CHD. In another 41 known gene and 7 new ESTs ingroup, the expression of children with CHD was higher than that of normal children. Conclusion Differential screening of monozygotical twins (one CHD/one normal) is an effective strategy to identify genes associated with CHD. Some genes associated with congenital atrium septal defect, pulmonary stenosis were identified in this study.

关 键 词：正常儿童 病儿 单卵双胎 差异表达基因 EST 胎心 心脏畸形 核酸 cDNA文库 克隆 

分 类 号：R714.5[医药卫生—妇产科学]