对氧磷酶 1（PON1）多态性与特发性震颤的风险。
Paraoxonase 1 (PON1) polymorphisms and risk for essential tremor.
机构信息
Biochemistry and Molecular Biology, School of Biological Sciences, University of Extremadura, Badajoz, Spain.
出版信息
Eur J Neurol. 2010 Jun 1;17(6):879-81. doi: 10.1111/j.1468-1331.2009.02914.x. Epub 2009 Dec 30.
BACKGROUND
The polymorphic enzyme human serum paraoxonase 1 (PON1), encoded by the gene PON1 (chromosome 7q21.3), plays a major role in the metabolism of organophosphorus compounds. We investigated the possible association between the PON1 genotype and allelic variants of the polymorphisms Leu55Met and Glu192Arg, and the risk for essential tremor (ET).
METHODS
We studied the frequency of the PON1 genotypes and allelic variants in 201 patients with ET and 220 healthy controls using a PCR-RLFP method.
RESULTS
The frequencies of the PON1 genotypes and allelic variants of the polymorphisms Leu55Met and Gln192Arg did not differ significantly between patients with ET and controls. These polymorphisms were unrelated with the age of onset of ET.
CONCLUSIONS
PON1 polymorphisms are not related with the risk for ET.
背景
人血清对氧磷酶 1（PON1）是一种多态酶，由 PON1 基因（染色体 7q21.3）编码，在有机磷化合物的代谢中起着重要作用。我们研究了 PON1 基因型与 Leu55Met 和 Glu192Arg 多态性的等位基因变异之间的可能关联，以及与特发性震颤（ET）的风险。
方法
我们使用 PCR-RLFP 方法研究了 201 例 ET 患者和 220 例健康对照者的 PON1 基因型和等位基因变异的频率。
结果
ET 患者和对照组之间 PON1 基因型和 Leu55Met 和 Gln192Arg 多态性的等位基因变异的频率无显著差异。这些多态性与 ET 的发病年龄无关。
结论
PON1 多态性与 ET 的风险无关。
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