We are analyzing https://link.springer.com/article/10.1007/bf00163962.

Title:
A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein | Immunogenetics
Description:
Human mannan-binding protein (MBP) is a serum lectin participating in the innate immune defence. Low MBP concentrations are explained by the dominant action of a point mutation at codon 54 of the MBP gene in Eskimos, partially in Caucasians, but not in Africans. A previously described point mutation at codon 57 was very frequent (0.23) in East Africans, low in Caucasians (0.02), and absent in Eskimos. The African population only conformed to Hardy-Weinberg expectation when assuming the existence of an unknown allele, which was subsequently found as a point mutation at codon 52. This allele appeared with a relatively high frequency (0.05) in both Africans and Caucasians, but was absent in Eskimos. Hardy-Weinberg equilibrium is now seen in the investigated ethnic groups. All cases of MBP deficiency may be explained by these three variants.
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Keywords {🔍}

google, scholar, protein, gene, article, human, mannanbinding, thiel, garred, mannosebinding, exp, privacy, cookies, content, immunogenetics, allele, madsen, svejgaard, mbp, low, mutation, codon, binding, turner, data, publish, search, frequent, polymorphism, kurtzhals, lars, lectin, point, eskimos, africans, access, nature, immunol, denmark, information, log, journal, research, structural, lamm, ryder, serum, caucasians, deficiency, populations,

Topics {✒️}

human mannose-binding protein human mannan-binding protein innate immune defence month download article/chapter mannose binding protein mannose-binding protein bidirectional solid-phase sequencing investigated ethnic groups mannan-binding protein mannan binding protein serum lectin participating c-type lectin human plasma increase privacy choices/manage cookies full article pdf related subjects point mutation partial protein characterization article immunogenetics aims estimating gene frequencies acute-phase reactant acute phase response dna sequencing gene-counting method low serum concentrations european economic area hardy-weinberg expectation hardy-weinberg equilibrium medium vessel vasculitis sickle-cell trait subtertian malarial infection shares sequence homology classical complement pathway chain-terminating inhibitors base compositionindependent hybridization conditions privacy policy national university hospital skejby university hospital frequent allele accepting optional cookies complement deficiency syndrome check access instant access structural polymorphism low mbp concentrations january 1994 volume 40 journal finder publish article log group gene frequency

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      headline:A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein
      description:Human mannan-binding protein (MBP) is a serum lectin participating in the innate immune defence. Low MBP concentrations are explained by the dominant action of a point mutation at codon 54 of the MBP gene in Eskimos, partially in Caucasians, but not in Africans. A previously described point mutation at codon 57 was very frequent (0.23) in East Africans, low in Caucasians (0.02), and absent in Eskimos. The African population only conformed to Hardy-Weinberg expectation when assuming the existence of an unknown allele, which was subsequently found as a point mutation at codon 52. This allele appeared with a relatively high frequency (0.05) in both Africans and Caucasians, but was absent in Eskimos. Hardy-Weinberg equilibrium is now seen in the investigated ethnic groups. All cases of MBP deficiency may be explained by these three variants.
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