An AT-Rich Region in the APC Gene May Cause Misinterpretation of Familial Adenomatous Polyposis Molecular Screening

作者：Palmirotta Raffaele^*; De Marchis Maria Laura; Ludovici Giorgia; Leone Barbara; Valente Maria Giovanna; Alessandroni Jhessica; Spila Antonella; Della Morte David; Guadagni Fiorella

来源：Human Mutation, 2012, 33(5): 895-898.

DOI：10.1002/humu.22043

• FAP
• APC
• exon 4
• random mutagenesis

Familial adenomatous polyposis (FAP) is an autosomal-dominant condition mainly due to a mutation of the adenomatous polyposis coli (APC) gene. The present study reports evidence of a technical issue occurring during the mutational analysis of APC exon 4. Genetic conventional direct sequence analysis of a repetitive AT-rich region in the splice acceptor site of APC intron 3 could be misinterpreted as a pathogenetic frameshift result. However, this potential bias may be bypassed adopting a method for random mutagenesis of DNA based on the use of a triphosphate nucleoside analogues mixture. Using this method as a second-level analysis, we also demonstrated the nonpathogenic nature of the variant in the poly A trait in APC exon 4 region (c.423-4delA) that do not result in aberrant splicing of APC exons 3-4; conversely, we did not find a previously reported T deletion/insertion polymorphism. Hum Mutat 33: 895-898, 2012.

• 出版日期2012-5