Evaluation of the ELAC2 Ser217Leu and Ala541Thr Polymorphisms in the Patients with Prostate Cancer

Introduction: Prostate cancer is the fifth most common cancer in the world and the second leading cause of cancer death among men. The ELAC2 gene (HPC2 locus) on chromosome 17p11 has been identified as hereditary tumor suppressor genes in prostate cancer. Some evidence showed that ELAC2 Ser217Leu and Ala541Thr polymorphisms were associated with prostate cancer risk. The aim of this study was to investigate the ELAC2 Ser217Leu and Ala541Thr polymorphisms in the patients with prostate cancer. Methods: In this study, blood samples were collected from 64 persons of a family, which suspected to of having prostate cancer. The genomic DNA was extracted using Commercialthe commercial DNA extraction kit. ELAC2 Ser217Leu and Ala541Thr target regions were PCR amplified with specific primers. PCR products were then sequenced to determine mutations. The final analysis was performed using Rest 2009 software. AlsoFurthermore, SPSS software version 16 and Kolmogorov-Smirnov statistical test were used to evaluate the normality of the data and T test was used to evaluate the expression of ELAC2 gene and its relationship with T and N factors. Results: The results of gene sequencing for Ser217Leu mutation showed that 18.75% were mutant homozygote (Leu/Leu), 40.62% were heterozygote (Leu/Ser) and 40.62% were normal homozygote (Ser/Ser). In addition, for Ala541Thr, the Ala/Thr heterozygosity and Ala/Ala normal homozygosity were determined in 18.75% and 81.25%, respectively. There was not observed any mutant homozygosity (Thr/Thr) in these samples. Conclusion: The results of this study showed that Ser217Leu and Ala541Thr polymorphisms were associated with prostate cancer and might be used as susceptibility markers of prostate cancer. In addition, PCR and gene sequencing are very useful for screening the mutations of prostate cancer in clinical trials and diagnosis.