|CZECH MEDICAL ASSOCIATION J. Ev. PURKYNĚ|
|Journals - Article|
|Česky / Czech version|
The single nucleotide substitution c.645+32C>T in the APC gene is a nonpathogenic
polymorphism occuring in about 16% of the Czech population
P. Plevová 1, 2, L. Drobčinská3, J. Štekrová4, E. Šilhánová1
1. Department of Medical Genetics, Faculty Hospital, Tr. 17 listopadu 1790, 708 52 Ostrava, Czech Republic Institute of Pathology & Laboratory of Molecular Pathology, Medical Faculty, Palacký University, Olomouc, Czech Republic Medical-Social Faculty, Ostrava University, Ostrava, Czech Republic Institute of Biology and Medical Genetics of the First Faculty of Medicine and General Teaching Hospital, Charles University in Prague, Albertov 4, Prague, Czech Republic
Introduction: Familial adenomatous polyposis is an autosomal dominant disease characterised by predisposition to colon polyposis and colorectal cancer and caused by germline mutations in the APC gene. The aim of the study was to establish the frequency of c.645+32CT substitution in intron 5 of the APC gene in patients with multiple colon polyposis and in the general population and to determine if this substitution is a nonpathogenic polymorphism or a pathogenic mutation associated with multiple polyposis coli.
Methods and results: The frequency of c.645+32CT substitution in the APC gene was established in 170 patients with the clinical phenotype of familial adenomatous polyposis or its attenuated form using denaturating gradient gel electrophoresis and direct sequencing. We tested a population of 200 non-cancer persons using allelic specific polymerase chain reaction.
The c.645+32CT substitution was detected in 27 of 170 patients with multiple colon polyposis (i.e. 15,9%). The substitution was found in 32 of 200 control persons, i.e. in 16%. The difference between patients with polyposis and the control group was not statistically significant (p=0.979; chi-square test).
Conclusion: Our results suggest that the c.645+32CT substitution is a nonpathogenic single nucleotide polymorphism appearing in about 16% of the Czech population.
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