脆性组氨酸三联体基因与脊索瘤的相关性研究

Deletion of FHIT Gene in Human Chordoma

目的:脆性组氨酸三联体基因(FHIT)是第一个与肿瘤相关的包含脆性位点的基因,本研究探索FHIT基因改变与脊索瘤发生的关系。方法:应用RT-PCR方法,对18例脊索瘤患者的肿瘤和瘤旁正常组织的FHIT基因转录本进行检测。结果:11例(61.1%)存在FHIT转录本缺失,缺失片段范围100～500bp,其中1例同时含有正常和异常转录本。对其中2例进行测序,证实1例转录本缺失全部E5～E7外显子及部分E8外显子和部分E10外显子等两个片段;另1例转录本缺失全部E5～E9外显子及绝大部分E10外显子。结论:FHIT基因缺失是脊索瘤发生的重要事件之一,与脊索瘤的发生机制有关。

Objective:Fragile histidine triad(FHIT)gene is one of the histidine triad gene family,and the deletion of FHIT gene is one of the common genetic abnormalities observed in human cancers.Methods:Matched normal and cancerous tissues from18patients with chordoma were analyzed by RT-PCR.Results:11cases(61.1%)of cancerous tissues exhibited deletion of FHIT gene(the losing fragments ranged from100～500bp),including that one showed the presence of normal and abnormal transcripts in its lane.2cases were confirmed by DNA sequencing.The first transcript lost two fragments,one containing all exon5to exon7and part of exon8,and the other containing part of exon10;the other transcript lost all exon5to exon9and most of exon10.Conclusio n:These results suggested that deletion of FHIT gene may be very important to carcinogenesis of chordoma.