title: Restricted polymorphisms of the mannose-binding lectin gene in a population of Papua New Guinea.
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).
authors.affiliation: Department of Parasitology, Institute for Tropical Medicine, University of Tübingen, Germany.
authors.forename: Simone
authors.initials: S
authors.lastname: Jüliger
authors.forename: Peter G
authors.initials: PG
authors.lastname: Kremsner
authors.forename: Michael P
authors.initials: MP
authors.lastname: Alpers
authors.forename: John C
authors.initials: JC
authors.lastname: Reeder
authors.forename: Jürgen F J
authors.initials: JF
authors.lastname: Kun
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D001483:Base Sequence; D002352:Carrier Proteins / Q000097:blood / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D037222:Collectins; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D016778:Malaria, Falciparum / Q000097:blood / Q000235:genetics; D008969:Molecular Sequence Data; D010219:Papua New Guinea; D017354:Point Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics; D017384:Sequence Deletion
chemical_list: D020121:5' Untranslated Regions; D002352:Carrier Proteins; D037222:Collectins