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Fırat Üniversitesi Sağlık Bilimleri Tıp Dergisi
2019, Cilt 33, Sayı 2, Sayfa(lar) 077-081
[ Turkish ] [ Tam Metin ] [ PDF ]
Investigation of APC Gene Mutations in Attenuated Familial Adenomatous Polyposis Coli Cases in Elazığ Region
Semih DALKILIÇ1, Senel Sencer TEKTAŞ1, Lutfiye DALKILIÇ1, Abdurrahman ŞAHİN1, Nurettin TUNÇ2, Mehmet YALNIZ2, İbrahim Halil BAHCECİOĞLU2
1Fırat Üniversitesi, Fen Fakültesi, Biyoloji Bölümü, Elazığ, TÜRKİYE
2Fırat Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü Gasrroenteroloji Bilim Dalı, Elazığ, TÜRKİYE
Keywords: Attenuated familial adenomatous polyposis, APC gene, gene analysis

Objective: Colorectal cancers (CRCs) are represent familial characteristics at a rate of 1% and are called familial adenomatous polyposis (FAP) syndrome. Mutations responsible for FAP development in order of frequency are seen in the APC gene, MUTYH gene, and POLD1 and POLE genes. We investigated our patients for possible mutations in the APC gene.

Materials and Methods: From the isolated DNA samples, 1st ,2nd ,3rd ,4th ,5th ,9th exons and 1000 bp on the 3´ end of the 15th exon of APC, which were determined to have the highest frequency of mutations and polymorphisms that are related to AFP were sequenced by dideoxynucleotide Sanger method and evaluated for genetic variations.

Results: A total of 30 patients, 21 males (70%) and 9 females (30%) were included in the study. The mean age of the patients was 43.8 ± 13.0 years. The earliest polyp development age was 20 and early CRC development age was 40 in the families of the patients participated this study. In addition eighteen of the participants (60%) had a history of CRC in their family. No mutation was observed on the studied APC exons in DNA samples obtained from 30 individuals.

Conclusion: APC gene mutations were not detected in our patients. In these patients, other genes that may cause attenuated FAP syndrome, the MUTYH gene, and the POLD1 and POLE genes, should be further studied in order to determine the gene or genes that causes the FAP syndrome. Thus, further investigations are required.

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