Screen of single nucleotide polymorphism of DNA methyltransferase 1 in patients with systemic lupus erythematosus / 中华皮肤科杂志

ABSTRACT

Objective To screen single nucleotide polymorphism(SNP)of DNA methyltransferase 1 gene in patients with systemic lupus erythematosus(SLE).and to investigate the significance of abnormal expression of DNA methyltransferase in the pathogenesis of SLE.Methods Peripheral blood mononuclear cells(PBMCs)were obtained from 11 patients with SLE and 12 normal human controls.DNA was extracted from the PBMCs.and PCR was performed to amplify some exons(1 to 7)and corresponding introns followed by direct sequencing.Results There was a 21397T/C SNP in the intron 7 between exon 7 and exon 8 of DNA methyltransferase 1 gene in patients with SLE.The frequency of CC homozygote increased in patients with SLE compared with that in normal controls(5/11 vs 1/12,X~2=4.10,P＜0.05).Conclusions There is a 21397T/C SNP in DNA methyltransferase 1 gene in patients with SLE.which may be a component of genetic background underlying the abnormal expression Of DNA methyltransferase 1.