A NEW FREQUENT ALLELE IS THE MISSING LINK IN THE STRUCTURAL POLYMORPHISM OF THE HUMAN MANNAN-BINDING PROTEIN

作者：MADSEN HO^*; GARRED P; KURTZHALS JAL; LAMM LU; RYDER LP; THIEL S; SVEJGAARD A

来源：Immunogenetics, 1994, 40(1): 37-44.

DOI：10.1007/BF00163962

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.

• 出版日期1994-5
• 单位河北医科大学