Madsen H O, Garred P, Kurtzhals J A, Lamm L U, Ryder L P, Thiel S, Svejgaard A
Department of Clinical Immunology, Righospitalet, Copenhagen N, Denmark.
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.
人类甘露聚糖结合蛋白（MBP）是一种参与先天性免疫防御的血清凝集素。在爱斯基摩人中，MBP基因第54位密码子的点突变起主导作用，部分高加索人也是如此，但非洲人并非如此，这就解释了MBP浓度较低的原因。先前描述的第57位密码子的点突变在东非人中非常常见（0.23），在高加索人中较低（0.02），在爱斯基摩人中不存在。只有假设存在一个未知等位基因时，非洲人群才符合哈迪-温伯格预期，随后发现该等位基因为第52位密码子的点突变。该等位基因在非洲人和高加索人中出现的频率相对较高（0.05），但在爱斯基摩人中不存在。现在在所研究的种族群体中观察到了哈迪-温伯格平衡。所有MBP缺乏的病例都可以用这三种变异来解释。
