俄罗斯联邦D90A铜锌超氧化物歧化酶突变的地理和种族分布。
The geographical and ethnic distribution of the D90A CuZn-SOD mutation in the Russian Federation.
作者信息
Andersen P M, Spitsyn V A, Makarov S V, Nilsson L, Kravchuk O I, Bychkovskaya L S, Marklund S L
机构信息
Department of Pharmacology and Clinical Neuroscience, Russian Academy of Medical Sciences, Moscow.
出版信息
Amyotroph Lateral Scler Other Motor Neuron Disord. 2001 Jun;2(2):63-9. doi: 10.1080/146608201316949406.
INTRODUCTION
Mutations in the gene encoding the free radical scavenging enzyme CuZn-superoxide dismutase have been associated with amyotrophic lateral sclerosis (ALS). Ninety-eight mutations have been found worldwide in patients with ALS, all but one showing a dominant pattern of inheritance. The exception is the D90A mutation which in Finland, northern Norway and northern Sweden exists with an allele frequency of 1-2.5% and is in these regions associated with ALS inherited as a recessive trait.
METHODS AND RESULTS
In this study we searched for the D90A CuZn-SOD mutation in different ethnic populations of the Russian Federation and found the D90A mutation not only in locations close to the Scandinavian peninsula but also in remote populations in Asia.
CONCLUSION
The finding makes the D90A mutation the most prevalent CuZn-SOD mutation globally and has implications for interpreting the recent reports of D90A-heterozygous ALS patients in North America and Europe.
引言
编码自由基清除酶铜锌超氧化物歧化酶的基因突变与肌萎缩侧索硬化症（ALS）有关。在全球范围内，已在ALS患者中发现了98种突变，除一种外，均显示出显性遗传模式。例外的是D90A突变，在芬兰、挪威北部和瑞典北部，其等位基因频率为1%-2.5%，在这些地区与隐性遗传的ALS相关。
方法与结果
在本研究中，我们在俄罗斯联邦的不同种族人群中寻找D90A铜锌超氧化物歧化酶突变，发现该突变不仅存在于靠近斯堪的纳维亚半岛的地区，也存在于亚洲的偏远人群中。
结论
这一发现使D90A突变成为全球最普遍的铜锌超氧化物歧化酶突变，并对解释最近北美和欧洲关于D90A杂合性ALS患者的报告具有启示意义。
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