Bapat B, Berk T, Mitri A, Cohen Z, Gallinger S, Stern H
Steven Atanas Stavro FAP Registry, Mount Sinai Hospital, Samuel Lunenfeld Research Institute, University of Toronto, Canada.
Hum Mutat. 1994;4(4):253-6. doi: 10.1002/humu.1380040404.
Patients with Familial Adenomatous Polyposis (FAP) manifest numerous colorectal adenomas as well as benign and malignant extra-colonic lesions. Adenomatous polyposis coli (APC) gene mutations are the underlying genetic defect in FAP. We analyzed germline DNA of 81 unrelated FAP patients and evaluated correlation of APC mutation genotype and clinical phenotype. Germline APC mutations were identified in 18 FAP patients including two novel 2 bp deletions at APC codons 1067 and 1259. FAP patients were screened for hypertrophic ocular fundus lesions, desmoids and peri-ampullary adenomas. As reported previously (Olshwang et al 1993b), a positive correlation for the frequency of retinal lesions and germline APC mutation was observed among all FAP patients except one. No significant correlation was observed for APC mutation genotype and the occurrence of desmoids and peri-ampullary adenomas. Genetic factors contributing to familial segregation of these lesions need further investigation.
家族性腺瘤性息肉病（FAP）患者会出现大量结肠直肠腺瘤以及良性和恶性的结肠外病变。腺瘤性息肉病 coli（APC）基因突变是 FAP 的潜在遗传缺陷。我们分析了 81 例无亲缘关系的 FAP 患者的种系 DNA，并评估了 APC 突变基因型与临床表型的相关性。在 18 例 FAP 患者中鉴定出种系 APC 突变，其中包括 APC 密码子 1067 和 1259 处的两个新的 2bp 缺失。对 FAP 患者进行了肥厚性眼底病变、硬纤维瘤和壶腹周围腺瘤的筛查。如先前报道（Olshwang 等人，1993b），除 1 例患者外，在所有 FAP 患者中观察到视网膜病变频率与种系 APC 突变呈正相关。未观察到 APC 突变基因型与硬纤维瘤和壶腹周围腺瘤的发生之间存在显著相关性。导致这些病变家族性分离的遗传因素需要进一步研究。
