Stella A, Resta N, Gentile M, Susca F, Mareni C, Montera M P, Guanti G
Cattedra di Genetica Medica, Università di Bari, Italy.
Am J Hum Genet. 1993 Nov;53(5):1031-7.
Familial adenomatous polyposis (FAP) is a premalignant disease inherited as an autosomal dominant trait, characterized by hundreds to thousands of polyps in the colorectal tract. Recently, the syndrome has been shown to be caused by mutations in the APC (adenomatous polyposis coli) gene located on chromosome 5q21. We studied two families that both presented a phenotype different than that of the classical form of FAP. The most important findings observed in these two kindreds are (a) low and variable number of colonic polyps (from 5 to 100) and (b) a slower evolution of the disease, with colon cancer occurring at a more advanced age than in FAP in spite of the early onset of intestinal manifestations. To determine whether mutations of the APC gene are also responsible for this variant syndrome, linkage studies were performed by using a series of markers both intragenic and tightly linked to the APC gene. The results provide evidence for exclusion of the APC gene as the cause of the variant form of polyposis present in the two families described.
家族性腺瘤性息肉病（FAP）是一种作为常染色体显性性状遗传的癌前疾病，其特征是在结直肠中有数百至数千个息肉。最近，已证明该综合征是由位于5q21染色体上的APC（腺瘤性息肉病 coli）基因突变引起的。我们研究了两个家系，这两个家系均表现出与经典FAP形式不同的表型。在这两个家族中观察到的最重要发现是：（a）结肠息肉数量少且数量不一（从5个到100个）；（b）疾病进展较慢，尽管肠道症状出现较早，但与FAP相比，结肠癌发生在更晚的年龄。为了确定APC基因的突变是否也与这种变异综合征有关，我们使用一系列基因内和与APC基因紧密连锁的标记进行了连锁研究。结果提供了证据，排除了APC基因是所描述的两个家族中存在的息肉病变异形式的病因。
