Characterization of mannose-binding lectin (MBL) variants by allele-specific sequencing of MBL2 and determination of serum MBL protein levels

被引：9

作者：

Adamek, M. ^{[1
]}

Heyder, J. ^{[1
]}

Heinold, A. ^{[1
]}

Fiedler, G. ^{[1
]}

Opelz, G. ^{[1
]}

Tran, T. H. ^{[1
]}

机构：

[1] Heidelberg Univ, Dept Transplantat Immunol, Inst Immunol, D-69120 Heidelberg, Germany

来源：

TISSUE ANTIGENS | 2013年 / 82卷 / 06期

关键词：

haplotypes; mannose-binding lectin; MBL2; sequencing; GENE POLYMORPHISMS; GRAFT-SURVIVAL; KIDNEY-TRANSPLANTATION; PROMOTER; ASSOCIATION; MUTATIONS; GENOTYPE; PCR;

D O I：

10.1111/tan.12232

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Mannose-binding lectin (MBL) is a major component of the lectin pathway of complement activation. High and low MBL levels have been associated with susceptibility and severity of a variety of infectious and autoimmune diseases. Several single-nucleotide polymorphisms (SNPs) in the promoter region and exon 1 of the MBL2 gene are responsible for variations in serum MBL levels. We developed a sequence-based typing method for allele-specific MBL2 genotyping and measured serum MBL protein levels in 24 German blood donors. We identified the common MBL2 haplotypes including five promoter polymorphisms in linkage with the Q allele and correlated serum MBL levels with the respective genotypes. The genotyping method presented here could provide a basis for confirmatory studies in larger cohorts.

引用

页码：410 / 415

页数：6

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