PP41. APC GENE MUTATION ANALYSES IN CASES WITH COLON CANCER
ONRAT T.S1, Ellidokuz E2.,Küpelioğlu A3., Durhan E1., 1. Department of Biology , Molecular Biology, Afyon Kocatepe University Science Faculty, Afyon, Turkey. 2. Department of Internal Medicine and Gastroenterology, School of Medicine, Celal Bayar University , Manisa, Turkey. 3. Güneş Patology Laboratuary, Alsancak, İzmir, Turkey. e-mail: tutgunonrat@yahoo.com
*Corresponding Author:
page: 65

Abstract

Adenomatous polyposis, mainly of the colon, (APC) is a rare dominantly inherited susceptibility to colon cancer in which individuals develop hundreds of polyps mainly in their large bowel. The APC (Adenomatous polyposis coli) gene is located at 5q21-q22, contains 15 exons, has a corresponding mRNA of approximately 10 kb, and encodes a large protein with multiple functional domains. Mutation of the APC gene, a tumour suppressor, is thought to be an early event in colorectal tumourigenesis. APC is mutated in the germ-line DNA of patient with familial adenomatous polyposis. Somatic mutations or allelic deletion of APC, or both, have also been described in sporadic colorectal cancer. To detect the APC mutations in codon 641 exon11(Gen Bank; AF297218) and codon 1764 exon 15(Gen Bank: BC034955) sites that PCR-RFLP assay was used. In this study, DNA was isolated from colon cancer tissue samples of (19 females and 16 males)35 cases diagnosed to be colon carcinoma. Tissues were collected from 35 cases with  colon cancer  ages of female 40-90(mean age 65.952.76) and ages of male 40-79(mean age 61.673.07). Genomic DNA was extracted from paraffin embedded tissues using EZNA Tissue DNA Kit (Omega) the protocol. We used standard PCR-RFLP methods. After then 11th and 15th exons of APC were amplified by PCR method and APC mutation analyses was performed using by RsaI and Bbv12I restriction enzyme determined for exon 11 and exon 15. Mutations of exon 11 were present in 28 (80%) of 35 cases enrolled into study. In 10 (35.7%) cases homozygote mutant, in 11 (39.3%) cases heterozygote mutant were found. In 7(25.0%) cases were not found mutation and 7 (20%) were not obtained DNA isolation and restriction of enzyme. Mutations of exon 15 were present in 25 (71.4%) of 35 cases enrolled into study. In 12(48.0%) cases homozygote mutant, in 10 (40.0%) cases heterozygote mutant were found. In 3(12%) cases were not found mutation and 10 (28.6%) were not obtained DNA isolation and restriction of enzyme. As a result; in this study was detected mutations in site of exon 15; 22(88.0%) the more than site of exon 11; 21(75.0%).




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