Relationship between gene polymorphisms of mannose-binding lectin (MBL) and two molecular forms of MBL

被引:61
作者
Terai, I [1 ]
Kobayashi, K
Matsushita, M
Miyakawa, H
Mafune, N
Kikuta, H
机构
[1] Hlth Sci Univ Hokkaido, Inst Med Sci, Sapporo, Hokkaido 0028072, Japan
[2] Hokkaido Univ, Sch Med, Dept Pediat, Sapporo, Hokkaido 060, Japan
[3] Teikyo Univ, Sch Med, Dept Internal Med 4, Kawasaki, Kanagawa, Japan
[4] Rakuno Gakuen Univ, Fac Dairy Sci, Dept Food Sci, Lab Med Dietet, Ebetsu, Hokkaido, Japan
关键词
mannose-binding lectin; immunodeficiency; gene polymorphisms; lectin pathway; complement;
D O I
10.1002/eji.200323955
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Mannose-binding lectin (MBL) activates complement through MBL-associated serine proteases (MASP). A deficiency in MBL due to mutations at exon 1 of the human MBL gene is reported to cause vulnerability to infection. We examined sera of known MBL genotype by gel filtration and assessed their elution patterns using an ELISA for MBL and identified two MBL forms, a high-molecular-mass form and a lower-molecular-mass form. By the identification of either or both forms in individual sera, three types of patterns emerged: type 1 consisted of a high-molecular form; type 2, of a low-molecular form; and type 3, of both forms. Types 1, 2 and 3 corresponded, respectively, to a wild type (A/A), a homozygous mutation at codon 54 (B/B) and their heterozygote (A/B). One exception was a heterozygous LXPA/LYPB phenotype that exhibited the type-2 pattern. Binding to mannan and MASP-1/3 occurred exclusively with the high-molecular form. An apparent MBL deficiency does not in fact represent a deficiency in MBL molecules but rather the presence of circulating oligomeric mutant MBL with impaired function.
引用
收藏
页码:2755 / 2763
页数:9
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