原发性下肢深静脉瓣膜功能不全患者曲张大隐静脉组织内KIAA0353基因的表达缺失

Default of KIAA0353 gene in varicose great saphenous vein accompanying primary deep vein valve insufficiency

目的 筛选原发性下肢深静脉瓣膜功能不全 (PDVI)患者中大隐静脉曲张的致病相关基因。方法 利用荧光差异显示技术 (FDD) ,比较 10例PDVI患者中曲张的大隐静脉隐 股瓣膜区组织与正常人相应组织中mRNA表达的差异。获得的差异表达cDNA片段经Northern印迹证实后进行克隆和测序 ,分析其来源。结果 发现 37条差异表达cDNA片断 ( 30条证实为阳性 ) ,其中一条 5 40bp的片断只在正常人组中特异性表达 ,与人类KIAA0 35 3基因的mRNA部分序列有 99%的同源性。结论 原发性下肢深静脉瓣膜功能不全患者中大隐静脉曲张的发生是一个多基因参与的过程 ;KIAA0 35 3基因的表达缺失可能与PDVI患者中大隐静脉曲张的发生有关。

Objective To screen and identify the genes related to the occurrence and development of varicose great saphenous vein in the patients with primary deep vein valve insufficiency (PDVI). Methods mRNA fluorescent differential display (FDD) technique was used to compare the different cDNA fragments originated from differentially expressed mRNAs from the venous tissues of 10 patients with varicose great saphenous vein complicated with PDVI. Ten specimens of normal venous tissue from 10 patients dying from other diseases were used as controls. The differently expressed cDNA fragments were then re-amplified and labeled with DIG to prepare probes for later Northern blotting. Positive fragments confirmed by Northern blotting were cloned into pGEM-T easy vector and sequenced using Sanger′s method. Then the sequences were compared with the data in GeneBank by BLASTN software to search for their genetic origin. Results Altogether 37 differentially expressed cDNA fragments were discovered from the 2 groups, among which 30 were confirmed by Northern blotting. There was a notable 540 bp-long cDNA fragment, which was only presented in the control group, sharing 99% homology with part of the mRNA sequence of human KIAA0353 gene. Conclusion The varicose great saphenous vein of PDVI patients is a process with the involvement of multiple genes and the default of KIAA0353 gene may play a role in the occurrence and development of varicose great saphenous vein in PDVI patients.