Complete primary structure, chromosomal localisation, and definition of polymorphisms of the gene encoding the human interleukin-12 p40 subunit

被引：127

作者：

Huang, D

Cancilla, MR

Morahan, G ^{[1
]}

机构：

[1] PO Royal Melbourne Hosp, Walter & Eliza Hall Inst Med Res, Complex Genet Dis Lab, Melbourne, Vic 3050, Australia

[2] PO Royal Melbourne Hosp, Walter & Eliza Hall Inst Med Res, Cooperat Res Ctr Discovery Genes Common Human Dis, Melbourne, Vic 3050, Australia

来源：

GENES AND IMMUNITY | 2000年 / 1卷 / 08期

基金：

英国医学研究理事会;

关键词：

interleukin-12; polymorphisms; genetic variants;

D O I：

10.1038/sj.gene.6363720

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Owing to the importance of interleukin (IL)-12 in regulating immune responses, we have determined the complete genomic sequence and organization of the gene encoding its p40 subunit. The genomic sequence was determined and was compared to cDNA sequences to derive exon/intron boundaries. Unusually, both the first and last of the eight exons of this gene are not translated An extensive search identified several polymorphisms in IL-12p40, including repeat elements in introns 2 and 4 and a polymorphic Taql site in the 3UTR. However, no polymorphisms were found which could result in amino acid substitutions. This finding places constraints on any preferential involvement of alleles of IL-12p40 in contributing to autoimmune, inflammatory or infectious diseases.

引用

页码：515 / 520

页数：6

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