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一个有两个姐妹的日裔家庭,这两个姐妹显然是Mk纯合子。

A Japanese family with two sisters apparently homozygous for Mk.

作者信息

Okubo Y, Daniels G L, Parsons S F, Anstee D J, Yamaguchi H, Tomita T, Seno T

机构信息

Osaka Red Cross Blood Center, Japan.

出版信息

Vox Sang. 1988;54(2):107-11. doi: 10.1111/j.1423-0410.1988.tb01626.x.

Abstract

Two Japanese sisters with consanguineous parents have M-N- En(a-) Wr(a-b-) S-s-U- red cells and are therefore apparently homozygous for Mk; the third reported family with members of this genotype. The serum of the proposita (ORCMK) contained anti-EnaTS, anti-EnaFR and possibly anti-Wrb, whereas the serum of her MkMk sister contained no atypical antibodies. Total absence of sialoglycoproteins alpha and delta from red cell membranes of an Mk homozygote was demonstrated by lactoperoxidase-catalysed radioiodination of accessible tyrosine residues with subsequent SDS polyacrylamide gel electrophoresis and autoradiography, and by use of a monoclonal antibody directed at the cytoplasmic portion of alpha-sialoglycoprotein.

摘要

两名父母为近亲的日本姐妹拥有M - N - En(a -) Wr(a - b -) S - s - U - 红细胞,因此显然是Mk纯合子;这是第三个报道的具有这种基因型成员的家族。先证者(ORCMK)的血清中含有抗EnaTS、抗EnaFR以及可能的抗Wrb,而她的MkMk姐妹的血清中未检测到非典型抗体。通过用乳过氧化物酶催化可及酪氨酸残基的放射性碘化,随后进行SDS聚丙烯酰胺凝胶电泳和放射自显影,以及使用针对α - 唾液糖蛋白细胞质部分的单克隆抗体,证明了Mk纯合子红细胞膜完全缺乏唾液糖蛋白α和δ。

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