Single Nucleotide c.645+32C>T Substitution in the APC Gene is a Non-pathogenic Polymorphism Appearing in about 16% of the Czech Population
Authors:
P. Plevová 1,2; L. Drobčinská 3; J. Štekrová 4; E. Šilhánová 1
Authors‘ workplace:
Oddělení lékařské genetiky FN, Ostrava
1; Ústav patologie & Laboratoř molekulární patologie LF UP, Olomouc
2; Zdravotně sociální fakulta, Ostravská univerzita, Ostrava
3; Ústav biologie a lékařské genetiky 1. LF UK a VFN, Praha
4
Published in:
Čas. Lék. čes. 2008; 147: 266-268
Category:
Original Article
Overview
Background.
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+32C>T 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+32C>T 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+32C>T 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; chí-square test).
Conclusions.
Our results suggest that the c.645+32C>T substitution is a non-pathogenic single nucleotide polymorphism appearing in about 16% of the Czech population.
Key words:
familial adenomatous polyposis, APC gene, mutation, polymorphism.
Sources
1. Štekrová, J., Šulová, M., Zídková, K. et al.: Familiární adenomatózní polypóza – novinky v molekulární diagnostice. Klin. Onkol., 2006, 19 (Suppl.), s. 63–67.
2. Olschwang, S., Laurent-Puig, P., Groden, J. et al.: Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. Am. J. Hum. Genet., 1993a, 52, s. 273–279.
3. Olschwang, S., Tiret, A., Laurent-Puig, P. et al.: Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell, 1993b, 75, s. 959–968.
Labels
Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain management Dental HygienistArticle was published in
Journal of Czech Physicians
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