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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.

DOI:10.1093/oxfordjournals.jhered.a109747
PMID:6841965
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。

相似文献

1
Hemolytic anemia in the mouse. Report of a new mutation and clarification of its genetics.小鼠溶血性贫血。一种新突变的报告及其遗传学阐释。
J Hered. 1983 Mar-Apr;74(2):88-92. doi: 10.1093/oxfordjournals.jhered.a109747.
2
Developmental studies of mouse hereditary anemias.
Am J Med Genet. 1984 Aug;18(4):621-41. doi: 10.1002/ajmg.1320180410.
3
Spectrin deficient inherited hemolytic anemias in the mouse: characterization by spectrin synthesis and mRNA activity in reticulocytes.小鼠中血影蛋白缺陷型遗传性溶血性贫血：通过网织红细胞中的血影蛋白合成和mRNA活性进行表征。
Cell. 1984 Jul;37(3):721-9. doi: 10.1016/0092-8674(84)90408-2.
4
Altered lymphocyte populations in sphha/sphha mice with chronic hemolytic anemia.
Cell Immunol. 1991 Dec;138(2):360-71. doi: 10.1016/0008-8749(91)90160-d.
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Transplantation studies in mice with congenital hemolytic anemia.
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6
Spectrin St Claude, a splicing mutation of the human alpha-spectrin gene associated with severe poikilocytic anemia.血影蛋白圣克劳德，一种与严重异形红细胞贫血相关的人类α-血影蛋白基因的剪接突变。
Blood. 1997 Jun 15;89(12):4584-90.
7
[Hereditary diseases of erythrocyte membrane: from clinical aspects to underlying genetical and molecular mechanisms].[红细胞膜遗传性疾病：从临床方面到潜在的遗传和分子机制]
Ann Biol Clin (Paris). 2000 May-Jun;58(3):277-89.
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[Hemolytic anemia caused by congenital anomalies of the erythrocyte membrane].[红细胞膜先天性异常所致的溶血性贫血]
J Genet Hum. 1986 Nov;34(5):393-412.
9
Chromosomal location of three spectrin genes: relationship to the inherited hemolytic anemias of mouse and man.三种血影蛋白基因的染色体定位：与小鼠和人类遗传性溶血性贫血的关系。
Proc Natl Acad Sci U S A. 1988 Nov;85(21):8121-5. doi: 10.1073/pnas.85.21.8121.
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Novel α-spectrin mutation in trans with α-spectrin causing severe neonatal jaundice from hereditary spherocytosis.与α-血影蛋白反式排列的新型α-血影蛋白突变导致遗传性球形红细胞增多症引起的严重新生儿黄疸。
Neonatology. 2014;106(4):355-7. doi: 10.1159/000365586. Epub 2014 Oct 1.

引用本文的文献

1
A mutation affecting the lactate dehydrogenase locus Ldh-1 in the mouse. II. Mechanism of the LDH-A deficiency associated with hemolytic anemia.影响小鼠乳酸脱氢酶基因座Ldh-1的一种突变。II. 与溶血性贫血相关的LDH-A缺乏的机制。
Genetics. 1993 Sep;135(1):161-70. doi: 10.1093/genetics/135.1.161.
2
Clinicopathologic features of young and old sphha/sphha mice. Mutants with congenital hemolytic anemia.年轻和年老的sphha/sphha小鼠的临床病理特征。患有先天性溶血性贫血的突变体。
Am J Pathol. 1988 Sep;132(3):461-73.
3
The alpha-spectrin gene is on chromosome 1 in mouse and man.
α-血影蛋白基因在小鼠和人类中都位于1号染色体上。
Proc Natl Acad Sci U S A. 1985 Jun;82(11):3790-3. doi: 10.1073/pnas.82.11.3790.