Suppr超能文献

遗传性非息肉病性结直肠癌第二个易感位点的基因定位

Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer.

作者信息

Lindblom A, Tannergård P, Werelius B, Nordenskjöld M

机构信息

Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.

出版信息

Nat Genet. 1993 Nov;5(3):279-82. doi: 10.1038/ng1193-279.

Abstract

Hereditary colon cancer is caused by mutations in several different loci. The APC gene on chromosome 5 causing adenomatous polyposis coli represents a minority of the inherited colon cancer cases, while hereditary-non polyposis colon cancer (HNPCC) may cause five percent of all human colon cancer. One gene causing HNPCC was recently mapped to chromosome 2 but the same study also showed that at least one additional locus may cause HNPCC. We now present tight linkage between a polymorphic marker on the short arm of chromosome 3 and the disease locus, and find that these families also manifest signs of a general DNA replication disorder.

摘要

遗传性结肠癌是由几个不同基因座的突变引起的。5号染色体上导致腺瘤性息肉病的APC基因仅占遗传性结肠癌病例的少数,而遗传性非息肉病性结肠癌(HNPCC)可能导致所有人类结肠癌病例的5%。最近,一个导致HNPCC的基因被定位到2号染色体上,但同一项研究还表明,至少还有一个额外的基因座可能导致HNPCC。我们现在报告3号染色体短臂上的一个多态性标记与疾病基因座之间存在紧密连锁,并发现这些家族还表现出一般DNA复制障碍的迹象。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验