Hamzehloei T, West S P, Chapman P, Burn J, Curtis A
Department of Human Genetics, University of Newcastle upon Tyne, UK.
Mol Cell Probes. 1996 Oct;10(5):379-85. doi: 10.1006/mcpr.1996.0051.
Mutations in the APC gene are responsible for the dominantly inherited colon cancer syndrome, familial adenomatous polyposis (FAP). We have designed PCR primers which allow amplification by RT-PCR of exons 1-14 of the APC gene in six overlapping segments. The amplicons have been screened for the presence of mutations in patients affected with FAP using heteroduplex analysis. One patient has been identified with an alternatively spliced transcript involving exon 14 and a single base insertion mutation within the same exon.
APC基因的突变是导致显性遗传结肠癌综合征——家族性腺瘤性息肉病（FAP）的原因。我们设计了PCR引物，可通过RT-PCR对APC基因的1 - 14号外显子进行六个重叠片段的扩增。利用异源双链分析对FAP患者的扩增子进行了突变筛查。已鉴定出一名患者存在涉及14号外显子的可变剪接转录本以及同一外显子内的单个碱基插入突变。
