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与免疫球蛋白Cγ基因相关的限制性片段长度多态性揭示了连锁不平衡和基因组组织。

Restriction fragment length polymorphisms associated with immunoglobulin C gamma genes reveal linkage disequilibrium and genomic organization.

作者信息

Bech-Hansen N T, Linsley P S, Cox D W

出版信息

Proc Natl Acad Sci U S A. 1983 Nov;80(22):6952-6. doi: 10.1073/pnas.80.22.6952.

DOI:10.1073/pnas.80.22.6952
PMID:6316337
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC390104/
Abstract

We have demonstrated that restriction fragment length polymorphisms (RFLPs) produced by BamHI can be used as markers for constant (C) region heavy chain genes C psi gamma (C gamma pseudogene), C gamma 2, and C gamma 4. These RFLPs were found nonrandomly associated in the population sample studied. Of the eight combinations (haplotypes) of RFLPs theoretically possible, only two accounted for a total of 88% of the 116 chromosomes examined, a value greater than the total of 25% expected from random segregation of alleles. This indicates considerable linkage disequilibrium between C psi gamma, C gamma 2, and C gamma 4. Quantitative assessment of the degree of association between C gamma gene RFLPs, Gm markers, and switch region RFLPs adjacent to C mu and C alpha 1 revealed that C psi gamma is most tightly associated with C gamma 2 (r = 0.81 and 0.95 for the two common haplotypes), suggesting that C psi gamma maps to a position lying between C alpha 1 and C gamma 2. The association analysis used here should have general applicability for studying the genomic organization of other multigene families.

摘要

我们已经证明，由BamHI产生的限制性片段长度多态性（RFLP）可作为恒定（C）区重链基因C psiγ（Cγ假基因）、Cγ2和Cγ4的标记。在研究的人群样本中发现这些RFLP呈非随机关联。在理论上可能的8种RFLP组合（单倍型）中，只有两种组合在检测的116条染色体中占总数的88%，该值大于等位基因随机分离预期的25%。这表明C psiγ、Cγ2和Cγ4之间存在相当程度的连锁不平衡。对Cγ基因RFLP、Gm标记以及与Cμ和Cα1相邻的转换区RFLP之间的关联程度进行定量评估，结果显示C psiγ与Cγ2的关联最为紧密（两种常见单倍型的r值分别为0.81和0.95），这表明C psiγ定位于Cα1和Cγ2之间的位置。这里使用的关联分析对于研究其他多基因家族的基因组组织应该具有普遍适用性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a21/390104/5c0ae9cee1b9/pnas00648-0228-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a21/390104/aad31a1ed7e6/pnas00648-0226-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a21/390104/5c0ae9cee1b9/pnas00648-0228-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a21/390104/aad31a1ed7e6/pnas00648-0226-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a21/390104/5c0ae9cee1b9/pnas00648-0228-a.jpg

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Nature. 1982 Dec 23;300(5894):709-13. doi: 10.1038/300709a0.
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