Restricted polymorphisms of the mannose-binding lectin gene in a population of Papua New Guinea

Mutat Res. 2002 Aug 29;505(1-2):87-91. doi: 10.1016/s0027-5107(02)00142-2.

Abstract

The human mannose-binding lectin (MBL) is an important protein of the innate immune system. MBL is able to eliminate potential pathogens by activating the complement cascade or by opsonisation. We investigated the gene and promoter region of MBL in a population from Papua New Guinea infected with Plasmodium falciparum parasites and measured the appropriate serum concentrations of these individuals. Their serum levels of MBL, detected by ELISA, showed a wide range with concentrations between 632 and 7325 microg/l MBL. A known polymorphism in exon 1 at codon 54 causing an amino acid exchange from Gly to Asp occurred with a low frequency of 3%. Additional to the previously reported polymorphisms in the gene and promoter region of MBL, two novel polymorphic sites were found in the promoter region. One site was in the untranslated region of the MBL gene at position +1 (G-->A, termed R/S), and the second was located upstream of the gene at position -4 (G-->A, termed T/U).

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5' Untranslated Regions / genetics
  • Base Sequence
  • Carrier Proteins / blood
  • Carrier Proteins / genetics*
  • Chromosomes, Human, Pair 10 / genetics
  • Collectins
  • DNA Mutational Analysis
  • Exons / genetics
  • Gene Frequency
  • Genetic Variation
  • Humans
  • Malaria, Falciparum / blood
  • Malaria, Falciparum / genetics
  • Molecular Sequence Data
  • Papua New Guinea
  • Point Mutation
  • Promoter Regions, Genetic / genetics
  • Sequence Deletion

Substances

  • 5' Untranslated Regions
  • Carrier Proteins
  • Collectins