Gedde-Dahl T, Heim S, Lothe R, Bye R, Geitvik G A, Kyrkjebø H T, Hognestad J, Nygaard K, Bergan A, Olaisen B
Nord Med. 1989;104(1):12-5.
A research project initiated in 1978 comprised establishment of a national polyposis registry, a genetic linkage study using classical and DNA markers, an in vitro study of fibroblasts for transformation parameters and chromosome instability, and a comparative study of DNA-RFLPs in cancer and constitutional tissue. The linkage study (to be reported elsewhere) confirmed the recently reported close linkage between the polyposis gene locus APC and D5S71. No in vitro test for the presence of the APC gene has been confirmed or revealed, but we detected increased chromosomal instability on a statistical basis and also recorded abnormal DNA-repair. As per 1. January 1988 the prevalence of adenomatosis of colon and rectum in Norway was 1/43,500. Among patients born in the period 1931-1950 the incidence at birth of developing the disease is 1/20,000 and the mutation rate is 1/72,000 per gamete per generation. In Norway new mutants in healthy families will comprise 1/3-1/2 of all new cases in the coming two decades, or one of 36,000 births.
1978年启动的一项研究项目包括建立一个全国性息肉病登记处、一项使用经典标记和DNA标记的基因连锁研究、一项关于成纤维细胞转化参数和染色体不稳定性的体外研究，以及一项癌症组织和正常组织中DNA限制性片段长度多态性（DNA-RFLP）的比较研究。连锁研究（将在其他地方报告）证实了最近报道的息肉病基因位点APC与D5S71之间的紧密连锁。尚未证实或发现用于检测APC基因存在的体外试验，但我们在统计学基础上检测到染色体不稳定性增加，并且还记录到DNA修复异常。截至1988年1月1日，挪威结肠和直肠腺瘤病的患病率为1/43,500。在1931年至1950年期间出生的患者中，出生时患该病的发病率为1/20,000，突变率为每代每个配子1/72,000。在挪威，未来二十年健康家庭中的新突变体将占所有新病例的1/3至1/2，即每36,000例出生中有一例。
