Study on polymorphisms existing in coding region of ω-hydroxylase gene (CYP4F2) in a Han population

AIM: To identify the characteristic single nucleotide polymorphisms (SNPs) existing in the coding region of arachidonic acid ω-hydroxylase gene, CYP4F2, in a Han population. METHODS: Genomic DNA was extracted from white blood cells of 50 unrelated Chinese Han normotensive subjects. Coding regions were amplified by PCR. After sequencing, the information was aligned and summarized. RESULTS: Six SNP sites in CYP4F2 were identified. There were three sense mutations including G19026A in the 3′-uncoding region, T2013G and G18000A, which caused corresponding amino acid changes (V-G, V-M), respectively. Others were in intron region or nonsynonymous. CONCLUSION: Multiple variants exist within or near the coding region of CYP4F2 gene in a Han population. SNPs are different in variant races and most SNPs are nonsense or in intron region. These SNPs or variants may change biological activity of ω-hydroxylases.