Crosdale D. J, Ollier WER, Thomson W, Philip Dyer, Jensenious J, Johnson R. W, Poulton
Eur J Immunogenet. 2000;27, 3:111-7.
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.