The Mutation Spectrum of the <Emphasis Type="Italic">APC</Emphasis> Gene in Turkish Patients with Familial Adenomatous Polyposis |
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Authors: | Berrin Tunca Gulsah Cecener Unal Egeli Abdullah Zorluoglu Tuncay Yilmazlar |
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Institution: | (1) Department of Medical Biology, Faculty of Medicine, Uludag University, Bursa, Turkey;(2) Department of General Surgery, Acòbadem Hospital, Bursa, Turkey;(3) Department of General Surgery, Faculty of Medicine, Uludag University, Bursa, Turkey |
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Abstract: | Purpose Familial adenomatous polyposis, an autosomal-dominant disease characterized by the presence of 100 or more colorectal adenomatous
polyps, results from mutations in the adenomatous polyposis coli tumor suppressor gene. This study was designed to investigate
adenomatous polyposis coli gene mutations in members of Turkish families with familial adenomatous polyposis to constitute
an adenomatous polyposis coli mutation spectrum for the Turkish population and to determine specific biomarkers for use in
the early diagnosis of familial adenomatous polyposis.
Methods We investigated adenomatous polyposis coli gene mutations in six unrelated families with familial adenomatous polyposis by
using heteroduplex analysis and DNA sequencing.
Results We identified three different mutations in six families. Of these one is known and two are novel: 1018T>C and 1309delGAAAA.
The mutation of a T to C transversion at codon 1018 does not cause an alteration in the meaning of the codon; however, it
was determined that this silent mutation does cause the formation of new exonic splicing enhancers (ESEs) motifs on a mutated
sequence by using ESEfinder program.
Conclusions This study contributes to enlarging the adenomatous polyposis coli gene mutations spectrum and to defining new biomarkers
for the early diagnosis of Turkish patients with familial adenomatous polyposis.
Supported by Society of Investigation and Prevention of Genetic Diseases.
Reprints are not available. |
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Keywords: | Familial adenomatous polyposis Adenomatous polyposis coli gene Mutation Heterodublex analysis Exonic splicing enhancers Turkish population |
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