Analysis of DNMT1 Gene Polymorphisms in Sporadic Wilms Tumor

To detect two single nucleotide polymorphisms (SNPs) in DNMT1 gene and the expression of corresponding region (1aa-120aa) in Wilms tumor (WT) and normal kidney tissue and analyze the association of polymorphism with clinicopathological parameters. Genomic DNA was extracted from tumor and normal tissues. PCR was used to amplify two SNP sites (rs16999593 and rs75616428 from the coding region of DNMT1). The PCR products were sequenced and genotyped. The protein expression of the first 120 aa of DNMT1 was evaluated by immunohistochemistry. Among 25 cases whose genotypes and gene frequencies studied, 18 cases of heterozygosity and 2 cases of homozygosity were identified. The region of the first 120 aa of DNMT1 was expressed in epithelial cells in normal kidney tissue, but was upregulated in tumors. The rs16999593 polymorphism might be used as a risk factor for WT diagnosis.