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包含高度多态性的HLA I类基因的染色体区域在人类群体中表现出有限的大规模变异性。

The chromosome region containing the highly polymorphic HLA class I genes displays limited large scale variability in the human population.

作者信息

Chimini G, Pontarotti P, Nguyen C, Toubert A, Boretto J, Jordan B R

机构信息

Centre d'Immunologie INSERM-CNRS de Marseille-Luminy, France.

出版信息

EMBO J. 1988 Feb;7(2):395-400. doi: 10.1002/j.1460-2075.1988.tb02826.x.

DOI:10.1002/j.1460-2075.1988.tb02826.x
PMID:2835226
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC454333/
Abstract

The large-scale organization and polymorphism of the HLA class I region was investigated by pulsed field gel (PFG) fractionation of DNA from various HLA-typed cell lines cleaved by different 'rare cutter' restriction enzymes, followed by hybridization with 'general' and locus-specific HLA probes. Results indicate that (i) most HLA class I sequences are contained in a 340 kb MluI DNA fragment which also carries the HLA-A gene; (ii) HLA-A, -B and -C genes are present on different fragments bounded by 'HTF islands' (CpG-rich, unmethylated DNA regions containing multiple sites for 'rare cutter' enzymes) which generally coincide with the 5' regions of expressed genes; and (iii) very little fragment size polymorphism is seen, implying that expansion/contraction events in the HLA class I region due to unequal crossing over (as documented in the mouse class I system) are infrequently found in the human population.

摘要

通过脉冲场凝胶（PFG）对来自各种HLA分型细胞系的DNA进行分级分离，这些DNA被不同的“稀有切割”限制酶切割，然后与“通用”和位点特异性HLA探针杂交，研究了HLA I类区域的大规模组织和多态性。结果表明：（i）大多数HLA I类序列包含在一个340 kb的MluI DNA片段中，该片段也携带HLA - A基因；（ii）HLA - A、- B和- C基因存在于由“HTF岛”（富含CpG、未甲基化的DNA区域，含有多个“稀有切割”酶的位点）界定的不同片段上，这些“HTF岛”通常与表达基因的5'区域重合；（iii）几乎没有观察到片段大小多态性，这意味着在人类群体中很少发现由于不等交换（如在小鼠I类系统中所记录的）导致的HLA I类区域的扩增/收缩事件。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bad/454333/40094e119b89/emboj00139-0104-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bad/454333/90d0d64493cc/emboj00139-0102-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bad/454333/b9c7da66ef5a/emboj00139-0103-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bad/454333/40094e119b89/emboj00139-0104-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bad/454333/90d0d64493cc/emboj00139-0102-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bad/454333/b9c7da66ef5a/emboj00139-0103-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bad/454333/40094e119b89/emboj00139-0104-a.jpg

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本文引用的文献

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Use of HLA loss mutants to analyse the structure of the human major histocompatibility complex.利用HLA缺失突变体分析人类主要组织相容性复合体的结构。
Nature. 1982 Apr 1;296(5856):454-6. doi: 10.1038/296454a0.
2
Complete nucleotide sequence of a functional class I HLA gene, HLA-A3: implications for the evolution of HLA genes.功能性I类HLA基因HLA - A3的完整核苷酸序列：对HLA基因进化的启示
EMBO J. 1984 Apr;3(4):887-94. doi: 10.1002/j.1460-2075.1984.tb01901.x.
3
Complete nucleotide sequence of a gene encoding a functional human class I histocompatibility antigen (HLA-CW3).
HLA-E是唯一逃避CpG甲基化且在滋养层来源的人细胞系JAR中具有转录活性的I类基因。
Immunogenetics. 1993;38(2):117-30. doi: 10.1007/BF00190899.
4
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Nucleic Acids Res. 1988 Jul 25;16(14B):6767-78. doi: 10.1093/nar/16.14.6767.
5
Molecular analysis of the human MHC class I region using yeast artificial chromosome clones.
Immunogenetics. 1990;32(6):419-26. doi: 10.1007/BF00241636.
6
Molecular analysis of the human MHC class I region in hereditary haemochromatosis. A study by pulsed-field gel electrophoresis.遗传性血色素沉着症中人类主要组织相容性复合体I类区域的分子分析。脉冲场凝胶电泳研究
Hum Genet. 1990 Oct;85(5):531-6. doi: 10.1007/BF00194232.
7
Identification of expressed bovine class I MHC genes at two loci and demonstration of physical linkage.
Immunogenetics. 1991;33(4):247-54. doi: 10.1007/BF00230502.
8
Isolation and characterization of yeast artificial chromosome clones linking the HLA-B and HLA-C loci.连接HLA - B和HLA - C基因座的酵母人工染色体克隆的分离与鉴定。
Proc Natl Acad Sci U S A. 1991 Mar 1;88(5):1676-80. doi: 10.1073/pnas.88.5.1676.
9
HLA class I gene polymorphism in genetic hemochromatosis.遗传性血色素沉着症中的HLA I类基因多态性
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Proc Natl Acad Sci U S A. 1991 May 1;88(9):3753-7. doi: 10.1073/pnas.88.9.3753.
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