人免疫球蛋白Kappa (IGK)基因命名法

M. Lefranc
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引用次数: 40

摘要

“人类免疫球蛋白卡帕(IGK)基因的命名法”是“IMGT焦点位点”部分的第17篇报道,提供了所有人类IGK基因的第一个完整列表。在最常见的单倍型中,人类IGK基因座跨越1820 kb, IGKV基因被组织在两个簇中,间隔800 kb。在那些近端和远端IGKV集群都存在的单倍型中,每个单倍体基因组的人类IGK基因总数为82个(如果包括孤儿,则为107个),其中37-41个是功能性的。如果只有近端IGKV集群存在,这是在一种罕见的单倍型中发现的,那么每个单倍体基因组的基因总数为46个(如果包括孤儿,则为71个基因),其中23-25个基因具有功能。染色体2p11.2上的人类IGK基因和染色体1、2、15、22上的IGK孤儿的IMGT/HUGO基因名称和定义,按照IMGT科学图谱的规则提供基因功能和等位基因数量,并提供IMGT参考序列的入库编号,以及已录入所有IMGT人类IGK基因的Genome Database GDB和NCBI LocusLink数据库的入库ID。这些表格可在IMGT Marie-Paule页面上获得,IMGT是国际免疫遗传学数据库(http://imgt.cines.fr:8104),由法国蒙彼利埃第二大学的Marie-Paule Lefranc创建。
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Nomenclature of the Human Immunoglobulin Kappa (IGK) Genes
‘Nomenclature of the Human Immunoglobulin Kappa (IGK) Genes’, the 17th report of the ‘IMGT Locus in Focus’ section, provides the first complete list of all the human IGK genes. In the most frequent haplotypes, the human IGK locus spans 1,820 kb and the IGKV genes are organized in two clusters separated by 800 kb. In those haplotypes where both the proximal and distal IGKV clusters are present, the total number of human IGK genes per haploid genome is 82 (107 genes if the orphons are included) of which 37–41 are functional. If only the proximal IGKV cluster is present, which is found in a rare haplotype, the total number of genes per haploid genome is 46 (71 genes if the orphons are included) of which 23–25 genes are functional. IMGT/HUGO gene names and definitions of the human IGK genes on chromosome 2p11.2, and IGK orphons on chromosomes 1, 2, 15, and 22 are provided with the gene functionality and the number of alleles according to the rules of the IMGT Scientific chart, with the accession numbers of the IMGT reference sequences, and the accession ID of the Genome Database GDB and NCBI LocusLink databases in which all the IMGT human IGK genes have been entered. The tables are available at the IMGT Marie-Paule page from IMGT, the international ImMunoGeneTics database (http://imgt.cines.fr:8104) created by Marie-Paule Lefranc, Université Montpellier II, CNRS, France.
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