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小鼠溶血性贫血。一种新突变的报告及其遗传学阐释。

Hemolytic anemia in the mouse. Report of a new mutation and clarification of its genetics.

作者信息

Unger A E, Harris M J, Bernstein S E, Falcone J C, Lux S E

出版信息

J Hered. 1983 Mar-Apr;74(2):88-92. doi: 10.1093/oxfordjournals.jhered.a109747.

Abstract

A new mutation causing spherocytic, hemolytic anemia has been discovered in the house mouse. It is inherited as a single autosomal recessive gene, allelic with both sph and ha, which, in turn, were shown to be allelic with each other. A revised nomenclature for the three apparent alleles is proposed: sph (formerly sph), sphha (formerly ha), and sph2Bc (the new mutation). Like the other murine hemolytic anemias, sph2Bc involves a defect in the red blood cell membrane protein, spectrin.

摘要

在家鼠中发现了一种导致球形红细胞性溶血性贫血的新突变。它作为一个单一的常染色体隐性基因遗传,与sph和ha等位,而sph和ha又被证明彼此等位。提出了这三个明显等位基因的修订命名法:sph(原sph)、sphha(原ha)和sph2Bc(新突变)。与其他鼠类溶血性贫血一样,sph2Bc涉及红细胞膜蛋白血影蛋白的缺陷。

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