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美拉尼西亚人中与遗传性椭圆形红细胞增多症相关的血型抗原的选择性抑制

Selective depression of blood group antigens associated with hereditary ovalocytosis among melanesians.

作者信息

Booth P B, Serjeantson S, Woodfield D G, Amato D

出版信息

Vox Sang. 1977;32(2):99-110. doi: 10.1111/j.1423-0410.1977.tb00612.x.

Abstract

Recessively inherited ovalocytosis in coastal Melanesians is associated with widespread, but selective, depression of blood group antigens in homozygotes, who comprise about 15% of these populations. It is suggested that a membrane anomaly exists, and that the series of depressed determinants all depend, for their full expression, upon the same membrane component(s), the proper synthesis of which is being genetically affected. Affected antigens would thus be associated by position and/or structure. Antigens subject to depression include IT, IF, LW,D,C,e,S,s,U,Kpb,JKa,JKb,Xga,Wrb,Scl and Ena, which are simultaneously affected when present on oval cells. Reactivity of A1,ID,i,P1,M,N,Lub,k,Fya,Coa, Vel and Gea appears to be within the normal range on depressed cells, as does sialic acid content. Indirect evidence suggests that Z (associated with S and s) is among the depressed series, while NA and Leb are not. High H variants, common among Melanesians, seem absent among depressed bloods, and when such variants were excluded, H, A and B did not appear subject to depression. The distribution pattern of ovalocytosis suggests that it may confer some selective advantage in the tropical coastal environment. The findings also have implications concerning population genetic work in New Guinea.

摘要

沿海美拉尼西亚人中隐性遗传的椭圆形红细胞增多症与纯合子中血型抗原广泛但具有选择性的降低有关,纯合子约占这些人群的15%。有人提出存在一种膜异常,并且一系列降低的决定簇要充分表达都依赖于相同的膜成分,其正常合成受到遗传影响。因此,受影响的抗原在位置和/或结构上会相互关联。受影响的抗原包括IT、IF、LW、D、C、e、S、s、U、Kpb、JKa、JKb、Xga、Wrb、Scl和Ena,当它们出现在椭圆形细胞上时会同时受到影响。A1、ID、i、P1、M、N、Lub、k、Fya、Coa、Vel和Gea的反应性以及唾液酸含量在受影响的细胞上似乎都在正常范围内。间接证据表明,Z(与S和s相关)在受影响的系列中,而NA和Leb不在。美拉尼西亚人中常见的高H变异型在受影响的血型中似乎不存在,当排除这些变异型时,H、A和B似乎不受影响。椭圆形红细胞增多症的分布模式表明,它可能在热带沿海环境中赋予一些选择优势。这些发现也对新几内亚的群体遗传学研究有启示意义。

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