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Article: High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene

TitleHigh frequencies in African and non-African populations of independent mutations in the mannose binding protein gene
Authors
Issue Date1992
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 1992, v. 1 n. 9, p. 709-715 How to Cite?
AbstractWe have previously identified, in three British families having an index child with frequent infections, a point mutation (GGC→GAC) in codon 54 of exon 1 of the gene for the human lectin mannose binding protein (MBP). This was associated with low serum levels of this complement activating protein and would be anticipated to impair opsonization of mannose rich microorganisms. We now report a second point mutation (GGA→GAA) in Gambians from West Africa, involving codon 57 of exon 1. By substituting carboxylic acids for axial glycines in the translated proteins both mutations would be expected to disrupt the secondary structure of the collagenous triple helix of the 96 kDa MBP subunits. In the Gambians the codon 57 mutation was studied by PCR, sequence analysis and restriction analysis and found to be remarkably common (frequency of the mutant gene 0.29 in adults and 0.23 in newborns) whereas the codon 54 mutation was very rare (frequency 0.003). However, the codon 54 mutation was frequent in both a British Caucasian and a Hong Kong Chinese population (frequency of the mutant gene 0.17 and 0.11 respectively). It was predicted that both homozygous and heterozygous individuals would have profoundly reduced serum levels of the protein and this was confirmed by immunoassay as was the reduced capacity of such sera to activate complement through the MBP initiated classical pathway. Our data indicate that the two mutations have arisen independently since the divergence of African and non African populations and both have attained high frequencies.
Persistent Identifierhttp://hdl.handle.net/10722/170265
ISSN
2015 Impact Factor: 5.985
2015 SCImago Journal Rankings: 4.288

 

DC FieldValueLanguage
dc.contributor.authorLipscombe, RJen_US
dc.contributor.authorSumiya, Men_US
dc.contributor.authorHill, AVSen_US
dc.contributor.authorLau, YLen_US
dc.contributor.authorLevinsky, RJen_US
dc.contributor.authorSummerfield, JAen_US
dc.contributor.authorTurner, MWen_US
dc.date.accessioned2012-10-30T06:07:04Z-
dc.date.available2012-10-30T06:07:04Z-
dc.date.issued1992en_US
dc.identifier.citationHuman Molecular Genetics, 1992, v. 1 n. 9, p. 709-715en_US
dc.identifier.issn0964-6906en_US
dc.identifier.urihttp://hdl.handle.net/10722/170265-
dc.description.abstractWe have previously identified, in three British families having an index child with frequent infections, a point mutation (GGC→GAC) in codon 54 of exon 1 of the gene for the human lectin mannose binding protein (MBP). This was associated with low serum levels of this complement activating protein and would be anticipated to impair opsonization of mannose rich microorganisms. We now report a second point mutation (GGA→GAA) in Gambians from West Africa, involving codon 57 of exon 1. By substituting carboxylic acids for axial glycines in the translated proteins both mutations would be expected to disrupt the secondary structure of the collagenous triple helix of the 96 kDa MBP subunits. In the Gambians the codon 57 mutation was studied by PCR, sequence analysis and restriction analysis and found to be remarkably common (frequency of the mutant gene 0.29 in adults and 0.23 in newborns) whereas the codon 54 mutation was very rare (frequency 0.003). However, the codon 54 mutation was frequent in both a British Caucasian and a Hong Kong Chinese population (frequency of the mutant gene 0.17 and 0.11 respectively). It was predicted that both homozygous and heterozygous individuals would have profoundly reduced serum levels of the protein and this was confirmed by immunoassay as was the reduced capacity of such sera to activate complement through the MBP initiated classical pathway. Our data indicate that the two mutations have arisen independently since the divergence of African and non African populations and both have attained high frequencies.en_US
dc.languageengen_US
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/en_US
dc.relation.ispartofHuman Molecular Geneticsen_US
dc.titleHigh frequencies in African and non-African populations of independent mutations in the mannose binding protein geneen_US
dc.typeArticleen_US
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.scopuseid_2-s2.0-0027027572en_US
dc.identifier.volume1en_US
dc.identifier.issue9en_US
dc.identifier.spage709en_US
dc.identifier.epage715en_US
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridLipscombe, RJ=6603156821en_US
dc.identifier.scopusauthoridSumiya, M=7006353058en_US
dc.identifier.scopusauthoridHill, AVS=7403278858en_US
dc.identifier.scopusauthoridLau, YL=7201403380en_US
dc.identifier.scopusauthoridLevinsky, RJ=7006539367en_US
dc.identifier.scopusauthoridSummerfield, JA=7004303597en_US
dc.identifier.scopusauthoridTurner, MW=7403215582en_US

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