Hutter P, Rey-Berthod C, Chappuis P O, Couturier A, Membrez V, Murphy A, Joris F, Schorderet D F, Delozier-Blanchet C, Soravia C
Unité de Génétique, Institut Central des Hôpitaux Valaisans, Av. Grand-Champsec, 1951 Sion, Switzerland.
Hum Mutat. 2001 Dec;18(6):550. doi: 10.1002/humu.1242.
Germ-line mutations in the 5' half of the Adenomatous Polyposis Coli (APC) gene are found in about 80% of the patients affected with familial adenomatous polyposis (FAP). The vast majority of these are nonsense or frameshift mutations which result in the loss of the carboxyl terminus of the APC protein. Using an in vivo assay in yeast, we have identified pathogenic germ-line mutations in 26 of 32 (81%) unrelated Swiss families affected with FAP. Nine mutations were novel and eight families were shown to harbor two recurrent mutations. Correlations were attempted between the location of APC germ-line mutations and clinical manifestations of the disease.
在约80%患家族性腺瘤性息肉病（FAP）的患者中发现腺瘤性息肉病 coli（APC）基因5' 端的种系突变。其中绝大多数是无义或移码突变，导致APC蛋白羧基末端缺失。通过酵母体内试验，我们在32个患FAP的不相关瑞士家族中的26个（81%）中鉴定出致病性种系突变。9个突变是新发现的，8个家族携带两种复发性突变。我们尝试了APC种系突变位置与该疾病临床表现之间的相关性分析。
