Investigation of APC mutations in a Turkish familial adenomatous polyposis family by heterodublex analysis
Date
2005-03
Authors
Menigatti, Mirco
Benatti, Piero
Pedroni, Monica
Scarselli, Alessandra
Borghi, Francesca
Sala, Elisa
Ponz de Leon, Maurizio
Journal Title
Journal ISSN
Volume Title
Publisher
Lippincott Williams & Wilkins
Abstract
PURPOSE: Familial adenomatous polyposis is an autosomal dominant disease characterized by the presence of 100 or more colorectal adenomatous polyps. Mutations in the adenomatous polyposis coli gene are primarily responsible for the development of this disease. This study was designed to investigation of adenomatous polyposis coli (APC) gene mutations in members of familial adenomatous polyposis family to identify individuals at risk of the disease. METHODS: We examined one patient with familial adenomatous polyposis and 21 family members including one affected person from familial adenomatous polyposis and 20 nonsymptomatic persons. We studied E, D, F, and G segments of exon 15 of the adenomatous polyposis coli gene by heteroduplex analysis. RESULTS: We used silver staining method for staining. We found a mutation for five persons at segment F of exon 15 of the adenomatous polyposis coli gene. Two of them were affected by colorectal cancer, one of whom was the proband, and the other three were non-symptomatic family members. The pathogenetic mutation was a T deletion at codon 1172, causing a frameshift in the adenomatous polyposis coli gene, as a result of the sequencing analysis of these cases. CONCLUSIONS: Investigation of adenomatous polyposis coli gene mutations is very important for the identification of genetic susceptibility to colorectal cancer and for the definition of tumor developing at an early stage. Furthermore, the identification of this mutation for the first time in a Turkish family will be useful to foster further studies on familial adenomatous polyposis in Turkey.
Description
Bu çalışma, 25-28 Mayıs 2002 tarihleri arasında Strasbourg[Fransa]’da düzenlenen European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics’ da bildiri olarak sunulmuştur.
Keywords
Gastroenterology & hepatology, Surgery, Familial adenomatous polyposis, Adenomatous polyposis coli mutation, Turkish population, Heterodublex analysis, Germ-line mutations, Retinal-pigment epithelium, Colorectal-cancer, Severe phenotype, Gene mutation, Genotype, Hypertrophy, Expression, Number, Tumors
Citation
Tunca, B. vd. (2005). "Investigation of APC mutations in a Turkish familial adenomatous polyposis family by heterodublex analysis". Diseases of the Colon and Rectum, 48(3), 567-571.