Analysis of genetic variation reveals human immunoglobulin VH-region gene organization.
Analysis of genetic variation reveals human immunoglobulin VH-region gene organization.
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遗传变异分析揭示了人类免疫球蛋白 VH 区基因组织。
DOI：
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发表时间：
1988
影响因子：
9.8
通讯作者：
D. Cox
中科院分区：
文献类型：
--
作者：
M. Walter;D. Cox
我们调查了遗传变异的程度和胚系重链可变(VH)基因的数量，以获得关于VH基因的组织和谱系的信息。我们的研究揭示了该区域广泛的遗传变异，这表明限制性内切酶位点的多态。对所选多态基因座分布的分析表明，存在连锁不平衡，特别是VH2和VH3亚类基因座之间的连锁不平衡，这表明这些亚类基因在人类生殖系染色体中是相互分散的。一个VH2基因座的等位基因与三个VH3基因座的等位基因之间存在绝对相关性，这证明了在48%的高加索人群中存在额外的一组VH基因。对VH基因数量的初步估计，大约有50个，表明VH基因的数量比蛋白质变异量所暗示的要少。我们观察到的广泛的遗传变异可能与免疫反应的遗传差异有关，也可能与自身免疫性疾病的易感性不同有关。
We have investigated the extent of genetic variation and the number of germ-line heavy-chain-variable (VH) genes to obtain information on the organization and repertoire of the VH genes. Our studies revealed extensive genetic variation in this region, indicated by restriction-endonuclease site polymorphisms. Analysis of the distribution of selected polymorphic loci revealed evidence of linkage disequilibrium, particularly between VH2 and VH3 subclass loci, indicating that the subclasses are interdispersed in the human germ-line chromosome. Absolute correlation was detected between alleles of a VH2 locus and the alleles of three VH3 loci, evidence for an extra set of VH genes, which are present in 48% of the Caucasian population. A preliminary estimate of the number of VH genes, approximately 50, indicates a smaller number of VH genes than suggested by the amount of protein variation. The extensive genetic variation we have observed may be associated with genetic differences in the immune response and potentially with variable susceptibility to autoimmune disorders.
人可变重链基因的多态性显示与恒定重链基因的连锁。
DOI：
10.1073/pnas.81.24.7840
发表时间：
1984
影响因子：
11.1
作者：
Johnson,MJ;Natali,AM;Cann,HM;Honjo,T;Cavalli-Sforza,LL
通讯作者：
Cavalli-Sforza,LL
小鼠免疫球蛋白 VH 基因座内基因和间隔区的组织。
DOI：
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发表时间：
1981
期刊：
Journal of molecular and applied genetics
影响因子：
--
作者：
Kemp,DJ;Tyler,B;Bernard,O;Gough,N;Gerondakis,S;Adams,JM;Cory,S
通讯作者：
Cory,S