Lindblom A, Tannergård P, Werelius B, Nordenskjöld M
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
Nat Genet. 1993 Nov;5(3):279-82. doi: 10.1038/ng1193-279.
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.
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。
