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胃癌中脆性组氨酸三联体基因异常的检测分析
引用本文:游思洪,刘平,张道富,丁小健,张小勇.胃癌中脆性组氨酸三联体基因异常的检测分析[J].南京医科大学学报,2005,25(4):231-235.
作者姓名:游思洪  刘平  张道富  丁小健  张小勇
作者单位:南京医科大学第一附属医院消化科 江苏南京210029 (游思洪),南京医科大学第一附属医院肿瘤科 江苏南京210029 (刘平),南京81医院消化科 江苏南京210002 (张道富),南京医科大学第一附属医院中心实验室 江苏南京210029 (丁小健),南京医科大学第一附属医院消化科 江苏南京210029(张小勇)
基金项目:江苏省医学重点人才培养计划“135”资助项目(2002)
摘    要:目的:检测脆性组氨酸三联体基因在胃癌组织中等位基因缺失和突变情况,分析该异常在胃癌发生中的作用。方法:用PCR鄄SSCP的方法检测36例胃癌和自身正常组织中FHIT基因外显子5、8及多态性位点D3S1300、D3S1234、D3S1312、D3S1313的缺失和突变。结果:肿瘤组织中外显子5有2例(2/36,5.6%)发生缺失,外显子8没有发现缺失;D3S1300的LOH发生率为25%(7/28),MSI为22.2%(8/36);D3S1234的LOH发生率为31%(9/29),MSI为13.9%(5/36);外显子5、8及多态性位点D3S1300、D3S1234、D3S1312、D3S1313的SSCP分析未发现突变。结论:胃癌患者FHIT基因外显子5、8的缺失和突变频率并不高,这种缺失和突变对胃癌的发生到底起多大作用需要进一步探讨;胃癌患者D3S1300、D3S1234位点的LOH、MSI等遗传不稳定现象发生频率较高,能否用于胃癌高危人群筛查和早期诊断值得进一步研究。

关 键 词:胃癌  FHIT  等位基因缺失
文章编号:1007-4368(2005)04-0231-05
修稿时间:2004年8月11日

Detection and analysis of abnormalities of FHIT gene in gastric cancer
YOU Si-hong,LIU Ping,ZHANG Dao-fu,DING Xiao-jian,ZHANG Xiao-yong.Detection and analysis of abnormalities of FHIT gene in gastric cancer[J].Acta Universitatis Medicinalis Nanjing,2005,25(4):231-235.
Authors:YOU Si-hong  LIU Ping  ZHANG Dao-fu  DING Xiao-jian  ZHANG Xiao-yong
Institution:YOU Si-hong,LIU Ping*1,ZHANG Dao-fu2,DING Xiao-jian3,ZHANG Xiao-yong
Abstract:Objective:To detect allelic deletion and mutation of FHIT gene in gastric cancer, and to analyze the role of the abnormalities in the carcinogenesis of gastric cancer. Methods:The allelic deletions and mutations of exon 5,8 of FHIT gene and microsatellites D3S1300, D3S1234, D3S1312, D3S1313 were detected in 36 gastric cancer samples and their corresponding normal tissues by PCR-SSCP. Results:Deletion of exon 5 was observed in 2 out of 36 tumor samples, and no deletion of exon 8 was found in tumor samples; The LOH(Loss of heterozygosity) rate at D3S1300 locus was 25%(7/28), and the rate of MSI(microsatellite instability) at D3S1300 was 22.2%(8/36); The LOH rate at D3S1234 was 31%(9/29), and the rate of MSI at D3S1234 was 13.9%(5/36);No mutation was found at exon 5,8 of FHIT gene and microsatellites D3S1300,D3S1234,D3S1312,D3S1313 by SSCP analysis. Conclusion:The rate of deletion and mutation of exon 5,8 of FHIT gene:low in gastric cancer,the exact role of the deletion and mutation of exon 5,8 of FHIT gene in the tumorigenesis of gastric cancer need more research;The rate of LOH and MSI at D3S1300 and D3S1234 loci is relatively high in gastric cancer,which deserve further research on the role of screening and early diagnosis of gastric cancer.
Keywords:gastric cancer  FHIT  allelic deletion
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