Abstract Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease. Patients with FAP develop hundreds to thousands of adenomatous polyps in the colon and rectum during their 2nd or 3rd decades, and one or more of them progress to cancer if left with- out surgical treatment. The gene responsible for FAP was identified in 1991 and termed the APC (adenomatous polyposis coli) gene. Following identification of APC, a number of germ-line mutations responsible for the devel- opment of the disease were found. The purpose of this study was to determine the usefulness of a new method, submerged gel electrophoresis, in the detection of the most-frequent mutation of the APC gene [5-base pair (bp) deletion in codon 1309], especially in the presymp- tomatic diagnosis of FAP. Genomic DNAs were isolated from peripheral blood of patients and their relatives. We used two methods, electrophoresis on polyacrylamide gel and submerged gel electrophoresis, for the identifica- tion of APC gene codon 1309 mutation. After only 110 min PCR fragments of 91 bp and 86 bp (5-bp dele- tion) were completely resolved on a Spreadex EL300 gel. Our results showed that electrophoresis using Sprea- dex gels provides a simple and rapid non-radioactive method for determination of the most-frequent germ-line mutations in the APC gene. Keywords APC gene · Mutation detection · Submerged gel electrophoresis Abbreviations APC: Adenomatous polyposis coli · FAP: Familial adenomatous polyposis Introduction Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease, affecting 1 in 7,000 people. Patients with FAP develop hundreds to thousands of ade- nomatous polyps in the colon and rectum during their 2nd or 3rd decades, and one or more of them progress to cancer if left without surgical treatment [1]. S. Kapitanović ( ✉ ) · T. ˇ Caˇ cev · R. Spaventi · K. Pavelić Division of Molecular Medicine, Rud - er Bošković Institute, Bijeniˇ cka c. 54, 10000 Zagreb, Croatia e-mail: kapitan@rudjer.irb.hr Tel.: +385-1-4561108, Fax: +385-1-4680094 R. Spaventi PLIVA d.d., Research and Development, Zagreb, Croatia J Mol Med (2001) 79:333–337 DOI 10.1007/s001090100216 ORIGINAL ARTICLE Sanja Kapitanović · Tamara ˇ Caˇ cev · Radan Spaventi Krešimir Pavelić Submerged gel electrophoresis on Spreadex gels – a new method for APC gene mutation detection Received: 23 October 2000 / Accepted: 2 February 2001 / Published online: 24 April 2001 © Springer-Verlag 2001 SANJA KAPITANOVI ˇ C received her M.D. and Ph.D. degrees from the Medical School at the University of Zagreb, Croatia. She is pres- ently a Research Associate in the Division of Molecular Medicine at the Rud - er Boškoviˇ c Institute, Zagreb. Her research interests include molecular genetics of heredi- tary and sporadic human can- cers. KREšIMIR P AVELIć received his M.D. and Ph.D. degree in medicine and experi- mental oncology from the Uni- versity of Zagreb, Croatia. He received research fellowship at the RPMI in Buffalo, N.Y., University of Cincinnati, Ohio, and a Fullbright fellow- ship at the Mayo Clinic, Rochester, Minn., USA. He is director of the Division of Molecular Medicine at Rud - er Bošković Institute and Direc- tor of the National Cancer Re- search Program of the Repub- lic of Croatia. Dr. Pavelić is also Professor of Molecular Biology at the Department of Pharmacy and Biochemistry at the University of Zagreb. His research interests include mo- lecular medicine, particularly cancer genetics.