Novel polymorphisms in the promoter and 5′ UTR regions of the human vascular endothelial growth factor gene
Novel polymorphisms in the promoter and 5′ UTR regions of the human vascular endothelial growth factor gene
复制标题
DOI：
10.1016/s0198-8859(99)00132-9
复制
发表时间：
1999-12-01
期刊：
影响因子：
2.7
通讯作者：
Hutchinson, IV
中科院分区：
文献类型：
--
作者：
Brogan, IJ;Khan, N;Hutchinson, IV
我们在人血管内皮生长因子（VEGF）基因的启动子和5' UTR区域发现了5个新的单核苷酸多态性。在相对于翻译起始位点的-2578核苷酸位置上观察到C—> A、T—> C在-1455位置、G—> A在-1154位置、G—> C在-1001位置和C—> T在-7位置的转变。此外，A等位基因位于-2578位的个体也插入了18个核苷酸，而CC纯合子则不包含此插入离子。我们描述了健康志愿者人群中多态等位基因的频率分布，并正在研究18个核苷酸插入和单核苷酸多态性对VEGF基因表达的功能意义。(C)美国组织相容性与免疫遗传学学会，1999。Elsevier Science Inc.出版。
We have characterized 5 novel, single-nucleotide polymorphisms in the promoter and 5' UTR regions of the human vascular endothelial growth factor (VEGF) gene. Transitions C --> A at nucleotide position -2578 relative co the translation start sire, T --> C at position -1455, G --> A at position -1154, G --> C at position -1001, and C --> T at position -7 were observed. In addition, individuals with the A allele at position -2578 also had an insertion of 18 nucleotides, whereas CC homozygotes did not contain this insert ion. We have described the frequency distribution of the poly-morphic alleles in the population of healthy volunteers and are investigating the functional significance of the 18-nucleotide insertion and of the single-nucleotide polymorphisms on VEGF gene expression. (C) American Society for Histocompatibility and Immunogenetics, 1999. Published by Elsevier Science Inc.