Su L K, Kinzler K W, Vogelstein B, Preisinger A C, Moser A R, Luongo C, Gould K A, Dove W F
Molecular Genetics Laboratory, Johns Hopkins University School of Medicine, Baltimore, MD 21231.
Science. 1992 May 1;256(5057):668-70. doi: 10.1126/science.1350108.
Germ-line mutations of the APC gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominantly inherited disease in humans. Patients with FAP develop multiple benign colorectal tumors. Recently, a mouse lineage that exhibits an autosomal dominantly inherited predisposition to multiple intestinal neoplasia (Min) was described. Linkage analysis showed that the murine homolog of the APC gene (mApc) was tightly linked to the Min locus. Sequence comparison of mApc between normal and Min-affected mice identified a nonsense mutation, which cosegregated with the Min phenotype. This mutation is analogous to those found in FAP kindreds and in sporadic colorectal cancers.
APC基因的种系突变是家族性腺瘤性息肉病（FAP）的病因，FAP是人类一种常染色体显性遗传疾病。FAP患者会出现多个良性结肠直肠肿瘤。最近，描述了一种小鼠品系，其表现出对多发性肠道肿瘤（Min）的常染色体显性遗传易感性。连锁分析表明，APC基因的小鼠同源物（mApc）与Min位点紧密连锁。对正常小鼠和患Min小鼠的mApc进行序列比较，发现了一个无义突变，该突变与Min表型共分离。此突变类似于在FAP家族和散发性结直肠癌中发现的突变。
