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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(PDF)

《心脏杂志》[ISSN:1009-7236/CN:61-1268/R]

期数:
2009年第4期
页码:
507-510
栏目:
临床研究
出版日期:
2009-06-25

文章信息/Info

Title:
Study on polymorphisms existing in coding region of ω-hydroxylase gene (CYP4F2) in a Han population
作者:
杨靖1任雨笙1汪道文2
1.第二军医大学附属长征医院心内科,上海 200003; 2.华中科技大学同济医学院附属同济医院心内科,湖北 武汉 430030
Author(s):
YANG Jing1 Ren Yu-sheng1 WANG Dao-wen2
1.Department of Cardiology, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China; 2.Department of Cardiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei, China
关键词:
花生四烯酸ω-羟化酶CYP4F2多态性位点
Keywords:
arachidonic acid ω-hydroxylase CYP4F2 SNP
分类号:
Q786
DOI:
-
文献标识码:
A
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.

参考文献/References

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备注/Memo

备注/Memo:
收稿日期:2008-10-21.作者简介:杨靖,住院医师,硕士Email:ema-co@163.com
更新日期/Last Update: 2009-06-15