汉族人群花生四烯酸ω-羟化酶4F2基因编码区多态性位点的研究

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

    • 摘要: 目的 寻找汉族人群花生四烯酸细胞色素P450ω-羟化酶基因CYP4F2的编码区多态性位点分布情况。方法 采集50例血压正常、无血缘关系的汉族人外周静脉血白细胞;提取基因组DNA;设计特异性引物,PCR法分段扩增基因编码区序列,电泳检测后回收目的片断;测序,与参考序列比对后统计结果。 结果 CYP4F2共发现6个多态性位点,其中3个有意义:1个3′端非编码区的多态性位点G19026A,2个引起氨基酸改变的多态性位点T2013G和G18000A。其余为同义突变或者位于内含子区。结论 ①多态性位点存在种族差异;②突变位点大多数位于内含子区,或者为同义突变,仅有少数有意义;③发现的多态性位点可能引起蛋白质构象进而改变蛋白质功能,或者引起基因转录活性的改变。

       

      Abstract: 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.

       

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