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成人肌肉钠通道α亚基基因反复突变引起的高钾性周期性麻痹。

Hyperkalemic periodic paralysis caused by recurring mutation in the adult muscle sodium channel alpha-subunit gene.

作者信息

Sillén A, Wadelius C, Sundvall M, Ahlsten G, Gustavson K H

机构信息

Department of clinical Genetics, Uppsala University, Uppsala, Sweden.

出版信息

Genet Couns. 1996;7(4):267-75.

PMID:8985730
Abstract

Linkage studies and mutation analysis were performed in two Swedish families with hyperkalemic periodic paralysis (HYPP), an autosomal dominant inherited disorder characterized by episodic muscle weakness associated with increasing or high levels of serum potassium. The gene for HYPP is the gene encoding the alpha-subunit of the sodium channel of adult human skeletal muscle (SCN4A). SCN4A has been localized on chromosome 17 q closely linked to the human growth hormone gene. Linkage between a microsatellite polymorphism in the SCN4A gene and the disease was shown in two Swedish families (Z = 12.10 theta = 0). Sequence analysis revealed that the two Swedish families have got a C to T transition at position 2188 in the cDNA. At the protein level this Thr 704 to Met mutation is located in the fifth membrane spanning segment of domain II of the protein, as previously described (28). The mutation was linked to different microsatellite alleles regarding both a (GT)n and a (GA)n repeat in the gene. Either the families are related and new mutations have occurred in both microsatellites when the pedigrees were separated or the mutation has arisen independently in the two families analysed. From the mutant alleles characterized so far it seems as if a limited number of mutations is present in this gene.

摘要

对两个患有高钾性周期性麻痹(HYPP)的瑞典家族进行了连锁研究和突变分析。高钾性周期性麻痹是一种常染色体显性遗传性疾病,其特征为发作性肌无力,伴有血清钾水平升高或处于高水平。HYPP的致病基因是编码成体人类骨骼肌钠通道α亚基的基因(SCN4A)。SCN4A已被定位于17号染色体长臂,与人类生长激素基因紧密连锁。在两个瑞典家族中显示出SCN4A基因中的微卫星多态性与该疾病之间存在连锁关系(Z = 12.10,θ = 0)。序列分析表明,这两个瑞典家族在cDNA的2188位发生了C到T的转换。在蛋白质水平上,这种苏氨酸704到甲硫氨酸的突变位于该蛋白质结构域II的第五个跨膜片段中,如先前所述(28)。该突变与该基因中一个(GT)n重复序列和一个(GA)n重复序列的不同微卫星等位基因相关。要么这些家族具有亲缘关系,在谱系分离时两个微卫星中都出现了新的突变,要么该突变在两个被分析的家族中独立出现。从目前已鉴定的突变等位基因来看,该基因似乎存在数量有限的突变。

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