Characterization of mannose-binding lectin (MBL) variants by allele-specific sequencing of MBL2 and determination of serum MBL protein levels
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 an...
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| Main Authors: | , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
17 October 2013
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| In: |
Tissue antigens
Year: 2013, Volume: 82, Issue: 6, Pages: 410-415 |
| ISSN: | 1399-0039 |
| DOI: | https://doi.org/10.1111/tan.12232 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/https://doi.org/10.1111/tan.12232 Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/tan.12232 
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| Author Notes: | M. Adamek, J. Heyder, A. Heinold, G. Fiedler, G. Opelz & T.H. Tran |
| Summary: | 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. |
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| Item Description: | Gesehen am 05.05.2021 |
| Physical Description: | Online Resource |
| ISSN: | 1399-0039 |
| DOI: | https://doi.org/10.1111/tan.12232 |