AN APPROACH TO SELECTION OF FUNCTIONAL SNP BASED ON ASSOCIATION BETWEEN POLY MOREPHISM AND EXPRESSION OF GENE

摘要

An approach to determine functional SNP was introduced in this paper. Human immortalized B lymphocytes derived from the Chinese Han population were genotyped on multiple SNP in CYP2E1 and NQO1 genes. Functional SNP of genes in the Chinese Han population were evaluated by association between polymorphism and mRNA and enzyme activity expression induced by substrates related to benzene metabolism. The results revealed the cells with CYP2E1rs2070673TT and rs2030920CC had higher levels of transcription and enzyme activity after substrate induction, and cells with NQO1rs1800566CC had higher NQO1 enzyme activity after substrate induction. The study suggests CYP2E1 rs2070673, rs2030920 and NQO1 rs1800566 might be the functional SNP for benzene exposure. The method based on association between polymorphism and mRNA and enzyme activity expression induced by substrates in human immortalized B lymphocytes might be an effective tool to screen functional SNP.