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[原发性下肢深静脉瓣膜功能不全伴大隐静脉曲张中KIAA0353基因缺失]

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

作者信息

Yin Heng-hu, Wang Shen-ming, Wang Jin-song, Hu Zuo-jun, Huang Xue-ling

机构信息

Department of Vascular Surgery, First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China.

出版信息

Zhonghua Yi Xue Za Zhi. 2003 Apr 25;83(8):620-3.

Abstract

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.

摘要

目的

筛选并鉴定与原发性深静脉瓣膜功能不全(PDVI)患者大隐静脉曲张发生发展相关的基因。

方法

采用mRNA荧光差异显示(FDD)技术,比较10例合并PDVI的大隐静脉曲张患者静脉组织中差异表达mRNA产生的不同cDNA片段。选取10例因其他疾病死亡患者的正常静脉组织标本作为对照。将差异表达的cDNA片段重新扩增并用地高辛(DIG)标记,制备探针用于后续的Northern印迹分析。经Northern印迹分析确认的阳性片段克隆到pGEM-T easy载体中,采用桑格法进行测序。然后利用BLASTN软件将序列与GenBank中的数据进行比对,以寻找其基因来源。

结果

两组共发现37个差异表达的cDNA片段,其中30个经Northern印迹分析确认。有一个显著的540 bp长的cDNA片段,仅在对照组中出现,与人KIAA0353基因的部分mRNA序列具有99%的同源性。

结论

PDVI患者的大隐静脉曲张是一个多基因参与的过程,KIAA0353基因缺失可能在PDVI患者大隐静脉曲张的发生发展中起作用。

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