Human growth hormone 1 (GH1) gene expression:: Complex haplotype dependent influence of polymorphic variation in the proximal promoter and locus control region
Human growth hormone 1 (GH1) gene expression:: Complex haplotype dependent influence of polymorphic variation in the proximal promoter and locus control region
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DOI：
10.1002/humu.10167
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发表时间：
2003-04-01
期刊：
影响因子：
3.9
通讯作者：
Cooper, DN
中科院分区：
文献类型：
--
作者：
Horan, M;Millar, DS;Cooper, DN
人垂体表达生长激素（GH 1）基因近端启动子区具有高度多态性，至少含有15个单核苷酸多态性（SNP）。这种变异表现在40种不同的单倍型中，这种高度多样性可以用基因转换、复发突变和选择来解释。功能分析表明，12个单倍型与报告基因表达水平显着降低，而10个单倍型与显着增加的水平。前者在一般人群中往往比后者更普遍（p
The proximal promoter region of the human pituitary expressed growth hormone (GH1) gene is highly polymorphic, containing at least 15 single nucleotide polymorphisms (SNPs). This variation is manifest in 40 different haplotypes, the high diversity being explicable in terms of gene conversion, recurrent mutation, and selection. Functional analysis showed that 12 haplotypes were associated with a significantly reduced level of reporter gene expression whereas 10 haplotypes were associated with a significantly increased level. The former tend to be more prevalent in the general population than the latter (p