An investigation with polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis p53 codon 72 and MTHFR C677T polymorphisms in cervix, over and endometrium carcinomas

Some of p53 polymorphisms have been associated with increased risk of cancer development. A common poymorphism of p53 at codon 72 results in either a variant protein with a proline residue or an arginine residue. MTHFR encodes a 5,10-methylenetetrahydrofolate reductase protein. 5-methyltetrahydrofolate is the primary form of plasma folate. MTHFR folate metabolism has a very important role in DNA synthesis and repair. C677T polymorphism is encoded amino acid valine instead of alanine. In this study we invesitgated p53 codon 72 and MTHFR exon 4 polymorphisms in cervix, over and endometrial cancers. The study composed of 106 cervix, over and endometiral cancer patients and 101 healthy control individual. Genomic DNA was isolated from peripheral whole blood in patient group and control group. Exon 4 of p53 and MTHFR genes which frequently mutated in cervix, over and endometrial cancers was amplified from 207 samples. BstUI restriction enzyme was used to determine p53 gene mutations and HinfI enzyme was used to determine MTHFR mutations for PZR products. As a result, p53 gene codon 72 polymorphism between cervical cancer paitents and healthy individuals was observed statistically significant difference in Arg/Pro heterozygous genotype.However, the Arg/Arg genotype incidence was lower in patients than in the control group Pro/Pro genotype incidence is higher in patients. MTHFR gene C677T (Ala/Val) polymorphism in cervical and endometrial cancer patients and control group, 677CC homozygous normal and 677CT mutant heterozygous genotypes was found statistically significant difference. 677TT homozygous genotype was found statistically significant p53 gene codon 72 and MTHFR C677T polymorphism in ovarian cancer patients compared to healthy individuals, all genotypes, a statistically significant difference was observed. Based on the results of this study, we suggest that p53 codon 72 polymorphism and MTHFR C677T polimorphism may be important determinant for cervix, over and endometrium cancer but it is not sufficient for carcinogenesis.Key words : cervix cancer, over cancer, endometrial cancer, p53 codon 72,MTHFR