光谱的变异狗methylmalonic酸血症和识别常见的拉美裔突变和单体型。

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Worgan LC, Niles K, Tirone JC,霍夫曼,维尔纳,Sammak, Kucic T,理P, Rosenblatt DS

光谱的变异狗methylmalonic酸血症和识别常见的拉美裔突变和单体型。

哼Mutat。2006年1月,27 (1):31-43。

PubMed ID

16281286 (在PubMed

]

文摘

氰钴胺素停止响应methylmalonic酸血症(MMA,傻瓜互补类)核基因的突变的结果傻瓜,为线粒体酶编码methylmalonyl辅酶a变位酶(MCM)。更好地阐明突变导致MMA的谱,狗的基因测序160年狗MMA患者。序列分析发现突变等位基因在96%的疾病。在所有编码外显子突变被发现,但主要在第2外显子中,3、6和11所示。共有116个不同的突变,68的小说,被发现。116种不同的突变,53%是错义突变,22%是删除,复制或插入,16%是无意义突变,9%是剪切位点突变。六十一年的突变只在一个家庭被确认。一种新的外显子2的突变,c。322 c > T (p.R108C), 27岁被确认在16个拉美裔患者。SNP基因分型数据显示,西班牙这种突变患者共享一个共同的单体型。 Three other mutations were seen exclusively in Hispanic patients: c.280G>A (p.G94R), c.1022dupA, and c.970G>A (p.A324T). Seven mutations were seen almost exclusively in black patients, including the previously reported c.2150G>T (p.G717V) mutation, which was identified in 12 of 29 black patients. Two mutations were seen only in Asian patients. Some frequently identified mutations were not population-specific and were identified in patients of various ethnic backgrounds. Some of these mutations were found in mutation clusters in exons 2, 3, 6, and 11, suggesting a recurrent mutation.

DrugBank数据引用了这篇文章

药物靶点

药物	目标	类	生物	药理作用	行动
维生素b12	Methylmalonyl-CoA变位酶、线粒体	蛋白质	人类	是的	代数余子式	细节

多肽

的名字	UniProt ID
Methylmalonyl-CoA变位酶、线粒体	P22033	细节