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[MNSs系统、红细胞膜与假父系排除]

[MNSs system, erythrocyte membrane and false paternity exclusion].

作者信息

Metaxas M N, Metaxas-Buhler M

出版信息

Rev Fr Transfus Immunohematol. 1978 Feb;21(1):85-101. doi: 10.1016/s0338-4535(78)80034-8.

Abstract

The modification of the red cell membrane first observed by Darnborough and co-workers in En (a-) and EnaEn heterozygous persons, and characterized by a) exaggerated agglutinability of the cells by various serological reagents, b) decrease of their electric surface charge, and c) reduction of their sialic acid content, is shown to be regularly and, to all appearances, directly associated with weakness or absence of MN antigenic substance; it is not seen in comparable "variants" of the Ss antigens. This type of modified cell membrane is thus found in the presence of Mg, of weak forms of M or N (N2 with or without a positive direct antiglobulin test, or as produced by the gene complexes MS.Sta, Ms.Sta, MsMi.V or NsMi.V) and when antigen production at the MN locus is inhibited, completely or almost completely, by the "operator" genes En or Mk. Apparent exclusions of parentage due to some of the genes involved, particularly Mg, En and Mk, are presented. On the other hand, the NNSs genotypes of members of the 3 known families with an En(a-) propositus are discussed and a revised interpretation of them is given, based on renewed serological studies of the persons concerned. A genetical scheme of the MNSs system, comprising four "structural" loci-Ena MN, U Ss-and three "operators", is proposed.

摘要

达恩伯勒及其同事首次在En(a-)和EnaEn杂合子个体中观察到的红细胞膜修饰,其特征为:a) 各种血清学试剂对细胞的凝集性增强;b) 细胞表面电荷减少;c) 唾液酸含量降低。现已表明,这种修饰与MN抗原物质的缺乏或减弱有规律且明显直接相关;在Ss抗原的类似“变体”中未观察到这种情况。因此,在Mg存在时,以及在M或N的弱形式(N2,直接抗球蛋白试验阳性或阴性,或由基因复合体MS.Sta、Ms.Sta、MsMi.V或NsMi.V产生)存在时,当MN位点的抗原产生被“操纵子”基因En或Mk完全或几乎完全抑制时,就会发现这种修饰的细胞膜类型。文中还介绍了由于某些相关基因,特别是Mg、En和Mk导致的明显亲子关系排除情况。另一方面,对3个已知家系中具有En(a-)先证者的成员的NNSs基因型进行了讨论,并根据对相关人员的重新血清学研究给出了修订后的解释。本文提出了一个MNSs系统的遗传图谱,包括四个“结构”位点——Ena、MN、U、Ss——和三个“操纵子”。

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