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标准雪纳瑞犬的口形红细胞症与stomatin缺乏无关。

Stomatocytosis of Standard Schnauzers is not associated with stomatin deficiency.

作者信息

Paltrinieri Saverio, Comazzi Stefano, Ceciliani Fabrizio, Prohaska Rainer, Bonfanti Ugo

机构信息

Department of Veterinary Pathology, Hygiene and Public Health, Unit of Veterinary General Pathology and Parasitology, University of Milan Via Celoria 10, 20133, Milan, Italy.

出版信息

Vet J. 2007 Jan;173(1):200-3. doi: 10.1016/j.tvjl.2005.07.009. Epub 2005 Sep 13.

DOI:10.1016/j.tvjl.2005.07.009
PMID:16168686
Abstract

Stomatocytosis resembles human overhydrated hereditary stomatocytosis (OHSt), a disease characterised by a reduced or absent stomatin expression. The objective of this report was to investigate the expression level of stomatin in erythrocytes from Standard Schnauzers with stomatocytosis. Routine haematology, intraerythrocytic Na(+)/K(+) concentration and stomatin expression were evaluated in blood from twelve Standard Schnauzers and from three controls. SDS-PAGE and Western blotting on isolated integral membrane proteins were used to investigate stomatin expression. Circulating stomatocytes, macrocytosis, anisocytosis, increased erythrocyte fragility and high intracellular sodium and potassium concentrations were found in 10/12 dogs from the same breeding line although stomatin levels were similar to those of controls. In spite of the clinico-pathological similarities between human and canine stomatocytosis, erythrocytes from affected dogs do not lack stomatin and the expression level of this protein cannot therefore be used to diagnose hereditary stomatocytosis in Standard Schnauzers.

摘要

口形红细胞增多症类似于人类的遗传性水过多性口形红细胞增多症(OHSt),这是一种以口形蛋白表达减少或缺失为特征的疾病。本报告的目的是研究患有口形红细胞增多症的标准雪纳瑞犬红细胞中口形蛋白的表达水平。对12只标准雪纳瑞犬和3只对照犬的血液进行了常规血液学检查、红细胞内钠/钾浓度测定以及口形蛋白表达评估。采用十二烷基硫酸钠-聚丙烯酰胺凝胶电泳(SDS-PAGE)和对分离的整合膜蛋白进行蛋白质免疫印迹法来研究口形蛋白的表达。在来自同一繁育系的12只犬中的10只犬身上发现了循环口形红细胞、大红细胞症、红细胞大小不均、红细胞脆性增加以及细胞内高钠和高钾浓度,尽管口形蛋白水平与对照犬相似。尽管人类和犬类口形红细胞增多症在临床病理方面存在相似之处,但患病犬的红细胞并不缺乏口形蛋白,因此该蛋白的表达水平不能用于诊断标准雪纳瑞犬的遗传性口形红细胞增多症。

相似文献

1
Stomatocytosis of Standard Schnauzers is not associated with stomatin deficiency.标准雪纳瑞犬的口形红细胞症与stomatin缺乏无关。
Vet J. 2007 Jan;173(1):200-3. doi: 10.1016/j.tvjl.2005.07.009. Epub 2005 Sep 13.
2
Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction.4例新的stomatin缺陷型遗传性口形红细胞增多症综合征病例:stomatin缺陷型低温性细胞增多症变异型与神经功能障碍的关联
Br J Haematol. 2004 Jun;125(6):796-803. doi: 10.1111/j.1365-2141.2004.04965.x.
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Stomatin is mis-trafficked in the erythrocytes of overhydrated hereditary stomatocytosis, and is absent from normal primitive yolk sac-derived erythrocytes.水过多性遗传性口形红细胞增多症患者的红细胞中, stomatin 发生错误运输,而正常的原始卵黄囊来源的红细胞中则不存在stomatin。
Br J Haematol. 2005 Oct;131(2):265-77. doi: 10.1111/j.1365-2141.2005.05742.x.
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Stomatocytosis in 7 related Standard Schnauzers.7只相关标准雪纳瑞犬中的口形红细胞症
Vet Clin Pathol. 2004;33(4):234-9. doi: 10.1111/j.1939-165x.2004.tb00379.x.
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Membrane raft actin deficiency and altered Ca2+-induced vesiculation in stomatin-deficient overhydrated hereditary stomatocytosis.膜筏肌动蛋白缺乏及水通道蛋白缺乏性高渗性遗传性口形红细胞增多症中钙诱导的囊泡形成改变
Biochim Biophys Acta. 2008 Jan;1778(1):125-32. doi: 10.1016/j.bbamem.2007.09.016. Epub 2007 Sep 29.
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Genomic organization and 5'-flanking DNA sequence of the murine stomatin gene (Epb72).
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The "stomatin" gene and protein in overhydrated hereditary stomatocytosis.水过多性遗传性口形红细胞增多症中的“stomatin”基因与蛋白质
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Parallel reductions in stomatin and Na,K-ATPase through the exosomal pathway during reticulocyte maturation in dogs: stomatin as a genotypic and phenotypic marker of high K(+) and low K(+) red cells.犬网织红细胞成熟过程中通过外泌体途径使 stomatin 和钠钾ATP酶平行减少:stomatin 作为高钾和低钾红细胞的基因型和表型标志物
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Eukaryotic and prokaryotic stomatins: the proteolytic link.真核生物和原核生物中的stomatin蛋白:蛋白水解联系
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[A case of hereditary over-hydrated stomatocytosis with stomatospherocytes and spherocytes in the blood].[一例血液中出现口形球红细胞和球形红细胞的遗传性水合过度性口形红细胞增多症]
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引用本文的文献

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Cation-leak stomatocytosis in standard schnauzers does not cosegregate with coding mutations in the RhAG, SLC4A1, or GLUT1 genes associated with human disease.标准雪纳瑞中的阳离子漏出性口形红细胞增多症与人类疾病相关的 RhAG、SLC4A1 或 GLUT1 基因的编码突变不连锁。
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