Nugent K P, Phillips R K, Hodgson S V, Cottrell S, Smith-Ravin J, Pack K, Bodmer W F
St Mark's Hospital, London.
Gut. 1994 Nov;35(11):1622-3. doi: 10.1136/gut.35.11.1622.
The phenotypic expression in familial adenomatous polyposis (FAP) is variable. This study compares the phenotype of 27 patients with an identical 5 base pair (bp) deletion at codon 1309 with a group of 61 matched patients with FAP where knowledge of specific mutations is not available and with seven other different mutations in 24 subjects. Patients with the codon 1309 deletion have significantly more colorectal polyps at the time of colectomy than age and sex matched FAP controls (p = 0.0001). The median number of polyps in colectomy specimens of patients with the deletion at codon 1309 was 4000 (interquartile (IQ) range 3000-4875), compared with 600 (IQ range 488-1400) in the matched controls. Mutations at codon 1323, 1407, and 233 were also associated with large numbers of polyps. Desmoid disease and extracolonic cancers were more common with the mutation at codon 1309 (p = 0.003). In conclusion, there may be a correlation between a specific germline mutation and the number of large bowel polyps. There is residual heterogeneity in phenotypic expression, however, and this may result from the influence of other genes, specific environmental factors or chance.
家族性腺瘤性息肉病（FAP）的表型表达具有变异性。本研究比较了27例在密码子1309处有相同5个碱基对（bp）缺失的患者与61例匹配的FAP患者（这些患者的特定突变情况未知）以及24例具有其他7种不同突变的患者的表型。与年龄和性别匹配的FAP对照组相比，密码子1309缺失的患者在结肠切除术时的结直肠息肉明显更多（p = 0.0001）。密码子1309缺失患者结肠切除标本中的息肉中位数为4000个（四分位间距（IQ）范围为3000 - 4875），而匹配对照组为600个（IQ范围为488 - 1400）。密码子1323、1407和233处的突变也与大量息肉有关。硬纤维瘤病和结肠外癌症在密码子1309突变的患者中更常见（p = 0.003）。总之，特定的种系突变与大肠息肉数量之间可能存在相关性。然而，表型表达仍存在残余异质性，这可能是由其他基因、特定环境因素的影响或偶然因素导致的。
