Detection of protein truncating mutations in exons 1-14 of the APC gene using an in vivo fusion protein assay

✍ Scribed by C. Andreutti-Zaugg; A. Couturier; P. Chappuis; P. Hutter

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 24 KB
• Volume: 13
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1999)13:2<170::aid-humu13>3.0.co;2-4

✦ Synopsis

About 80% of the mutations identified to date in the Adenomatous Polyposis Coli (APC) gene have been found in the 5' half of the coding sequence, the vast majority of which (>95%) are nonsense or frameshift mutations that result in the loss of the carboxyl terminus of APC protein. Using a stop codon assay in yeast recently developed by others (Ishioka et al., 1997), we have screened the 5' half of the APC gene for mutations in 7 unrelated families affected with Familial Adenomatous Polyposis. The assay relies on the expression of a yeast reporter gene fused in frame to one of 3 contiguous segments of the APC open reading frame. Here we report on the detection by this assay of 5 germline mutations, 4 of which lie upstream of exon 15, where lesions appear to be sometimes difficult to detect by standard methods.