A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein

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...

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Bibliographic Details
Main Authors: Madsen, H O, Garred, P, Kurtzhals, J A, Lamm, L U, Ryder, L P, Thiel, S, Svejgaard, A
Format: Article in Journal/Newspaper
Language:English
Published: 1994
Subjects:
African Continental Ancestry Group
Alleles
Asian Continental Ancestry Group
Base Sequence
Carrier Proteins
Collectins
Denmark
European Continental Ancestry Group
Gene Frequency
Genotype
Greenland
Humans
Inuits
Kenya
Molecular Sequence Data
Polymorphism
Genetic
Sequence Homology
Nucleic Acid
eskimo*
inuits
Online Access:https://pure.au.dk/portal/da/publications/a-new-frequent-allele-is-the-missing-link-in-the-structural-polymorphism-of-the-human-mannanbinding-protein(35cef804-e97b-448c-adeb-35126d5cec95).html
Description
Summary: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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