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载脂蛋白B的DNA与蛋白质多态性之间的关系。

Relationships between DNA and protein polymorphisms of apolipoprotein B.

作者信息

Dunning A M, Tikkanen M J, Ehnholm C, Bütler R, Humphries S E

机构信息

Charing Cross Sunley Research Centre, Hammersmith, London, UK.

出版信息

Hum Genet. 1988 Apr;78(4):325-9. doi: 10.1007/BF00291728.

DOI:10.1007/BF00291728
PMID:2452126
Abstract

The associations between four restriction fragment length polymorphisms (RFLPs) of the gene for human apolipoprotein B (apo B) and five antigen group (Ag) protein-polymorphisms of apo B have been investigated in 24 unrelated Finnish individuals. In this sample a complete correlation exists between the EcoRI RFLP and the Ag(t/z) polymorphism. There is strong association between the alleles of the XbaI RFLP and Ag(c/g) and a weaker one of the same XbaI site with Ag(x/y). Linkage disequilibrium is observed between the PvuII RFLP and the Ag(a1/d) polymorphism. These associations confirm that the Ag variants are true protein sequence polymorphisms of apo B.

摘要

在24名无亲缘关系的芬兰个体中,研究了人类载脂蛋白B(apo B)基因的四种限制性片段长度多态性(RFLP)与apo B的五种抗原组(Ag)蛋白多态性之间的关联。在这个样本中,EcoRI RFLP与Ag(t/z)多态性之间存在完全相关性。XbaI RFLP的等位基因与Ag(c/g)之间存在强关联,而同一XbaI位点与Ag(x/y)之间的关联较弱。在PvuII RFLP与Ag(a1/d)多态性之间观察到连锁不平衡。这些关联证实了Ag变体是apo B真正的蛋白质序列多态性。

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2
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Apolipoprotein B amino acid 3611 substitution from arginine to glutamine creates the Ag (h/i) epitope: the polymorphism is not associated with differences in serum cholesterol and apolipoprotein B levels.载脂蛋白B第3611位氨基酸由精氨酸替换为谷氨酰胺产生Ag(h/i)表位:该多态性与血清胆固醇和载脂蛋白B水平的差异无关。
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Two amino acid substitutions in apolipoprotein B are in complete allelic association with the antigen group (x/y) polymorphism: evidence for little recombination in the 3' end of the human gene.载脂蛋白B中的两个氨基酸替换与抗原组(x/y)多态性完全等位关联:人类基因3'端重组很少的证据。
Am J Hum Genet. 1992 Jan;50(1):208-21.
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Molecular cloning of human LDL apolipoprotein B cDNA. Evidence for more than one gene per haploid genome.人低密度脂蛋白载脂蛋白B cDNA的分子克隆。单倍体基因组中存在多个基因的证据。
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