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Mannose binding lectin (MBL) genotype distributions with relation to serum levels in UK Caucasoids

Crosdale D. J, Ollier WER, Thomson W, Philip Dyer, Jensenious J, Johnson R. W, Poulton K

Eur J Immunogenet. 2000;27, 3:111-7.

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Abstract

Mannose binding lectin (MBL) gene and promoter-region polymorphisms contribute to a reduction in the levels of circulating MBL in a number of ways. Promoter polymorphisms affect the levels of MBL produced, whilst structurally encoding mutations cause non-functional protein to be assembled and subsequently degraded. MBL is important as a protein of the innate immune system in both the clearance of potential pathogens and the activation of the complement cascade. Using variations of SSP-PCR amplifications and SSO probing techniques, we have produced MBL-polymorphism haplotype and genotype profiles of a series of high-level MBL-producing, low-level MBL-producing and random individuals taken from a population of 800 UK Caucasoid controls. Structurally encoding mutant alleles were more frequent within the low-level producing cohort when compared to both high-level producers and the randomly selected sample. However, not all low-level producers could be accounted for by the possession of low-level encoding haplotypes. This may be due to the presence of additional, undetected polymorphisms governing MBL production, or another external factor that may influence the transcriptional regulation of the gene.

Bibliographic metadata

Type of resource:
Content type:
Publication type:
Published date:
Journal title:
Volume:
27, 3
Start page:
111
End page:
7
Pagination:
111-7
ISI Accession Number:
10940077
Access state:
Active

Record metadata

Manchester eScholar ID:
uk-ac-man-scw:1d21928
Created:
30th August, 2009, 16:19:56
Last modified:
21st September, 2012, 18:22:01