期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

CACNA1S基因与低钾周期性麻痹 被引量：3

CACNA1S Gene and Low-potassium Periodic Paralysis
下载PDF
导出
摘要 CACNA1S基因是L-型钙离子通道α1亚单位的编码基因,CACNA1S的基因突变会引起人低钾周期性麻痹及猪高温综合症,有关研究推测该基因是影响猪肉质性状的候选基因。笔者对CACNA1S基因的生物学特性、结构组成和CACNA1S基因突变引发的遗传病及CACNA1S基因的研究进展作了综合性阐述。 CACNA1S gene was the coding gene of α1 subunit of L-type calcium channel,its mutation would induce low-potassium periodic paralysis of human and high-temperature syndrom of pig. It was concluded in some related researches that this gene was a candidate gene influencing the fleshy characters of pig. The biological properties and structure composition of CACNA1S gene,the hereditary disease caused by its mutation and its research advance were discussed comprehensively.
作者 王雪 任守文 刘红林
机构地区 南京农业大学 江苏省农业科学研究院
出处 《畜牧与饲料科学》 2009年第2期138-140,共3页 Animal Husbandry and Feed Science
基金 国家资源平台项目(2005DKA2101) 江苏省高新技术研究项目(BG2005305)
关键词 CACNA1S基因 L-型钙离子通道 α1亚基 人低钾周期性麻痹 CACNA1S gene L-type calcium channel α1 subunit low-potassium periodic paralysis of human
分类号 Q754 [生物学—分子生物学]
  • 相关文献

参考文献18

  • 1Tanabe T,Takeshima H,Mikami A,et al.Primary structure of the receptor for calcium channel blockers from skeletal muscle[J].Nature,1987,328:313-318.
  • 2Drouet B,Garcia L,Simon-Chazottes D,et al.The gene coding for the alpha 1 subunit of the skeletal dihydropyridine receptor (Cchlla3 = mdg)maps to mouse chromosome 1 and human 1q32[J].Mamm Genome,1993,4(9):499-503.
  • 3Ptacek L J,Tawil R,Griggs R C,et al.Dihydropyridine receptor mutations cause hypokalemic periodic paralysis[J].Cell,1994,7 (6):863-868.
  • 4Klugbauer N,Hofmann F,Lerche H,et al.Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalaemic periodic paralysis[J].Pflügers Arch,1996,431 (3):461-463.
  • 5Fouad G,Dalakas M,Servidei S,et al.Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis[J].Neuromuscular Disorders,1997,7(1):33-38.
  • 6Ikeda Y,Watanabe M,Shoji M.Mutation analysis of the CACNLlA3 gene in Japanese hypokalemic periodic paralysis families[J].Nippon Rinsho,1997,55(12):3247-3252.
  • 7Wang Q,Liu M,Xu C,et al.Novel CACNAlS mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family[J].J Mol Med,2005,83 (3):167-169.
  • 8Robinson R L,Curran J L,Ellis F R,et al.Multiple interacting gene products may influence susceptibility to malignant hyperthermia[J].Ann Hum Genet,2000,64(4):307-320.
  • 9Fatt P,Ginaborg B L.The ionic requirements for the production of action potentials in crstacean muscle fibrea[J].J Physiol (London),1958,142:516-543.
  • 10Sternberg D,Maisanobe T,Jurkat-Rott K,et al.Hypokalemic periodic paralysis type 2 caused by mutation at code 672 in the muscle sodium channel gene SCN4A[J].Barin,2001,124(6):1091-1099.

二级参考文献48

  • 1方晓敏,赵晓枫,郭晓令,徐宁迎.应用辐射杂种细胞系对猪CACNA1S基因的定位研究[J].畜牧兽医学报,2006,37(3):309-312. 被引量：7
  • 2Ptacek L J, Tawil R, Griggs R C, et al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell, 1994, 77(6): 863-868
  • 3Ophoff R A, van den Maagclenberg A M, Roon K I, et al. The impact of pharmacogenetics for migraine. Eur J Pharmacol, 2001, 413(1): 1-10
  • 4Steckley J L, Ebers G C, Cader M Z, et al. An autosomal dominant disorder with episodic ataixia, vertigo and tinnims. Neurology, 2001, 57(8): 1499-1502
  • 5Restituito S, Thompson R M, Eliet J, et al. The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunitspecific enhanced activation of P/Q- type calcium channel in Xenopus oocytes. J Neurosci, 2000, 20(17): 6394-6403
  • 6Mariotti C, Gellera C, Grisoli M, et al. Pathogenic effect of an intermediate-size SCA-6 allele(CAG)19 in a homozygous patient. Neurology, 2001, 57(8): 1502-1504
  • 7Pietrobon D. Calcium channel and channelopathies of the central nervous system. Mol Neurobiol, 2002, 25(1): 31-45
  • 8Drouet B, Garcia L, Simon-Chazottes D, et al. The gene coding for the alpha 1 subunit of the skeletal dihydropyridine receptor (Cchlla3 = mdg) maps to mouse chromosome 1 and human lq32. Mamm Genome,1993, 4(9): 499-503
  • 9Fontaine B, Vale-Santos J, Jurkat-Rott K, et al. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet, 1994, 6(3): 267-272
  • 10Hogan K, Gregg R G, Powers P A. The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CA CNL1A3). Genomics, 1996, 31 (3): 392-394

共引文献15

同被引文献54

引证文献3

畜牧与饲料科学
2009年 第2期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部