[中国帕金森病患者儿茶酚-O-甲基转移酶和单胺氧化酶B基因的多态性]
[Polymorphisms of catechol-O-methyltransferase and monoamine oxidase B genes among Chinese patients with Parkinson's disease].
作者信息
Hao Hongying, Shao Ming, An Jing, Chen Chushuang, Feng Xiuli, Xie Shu, Gu Zhuqin, Chen Biao
机构信息
Department of Neurology, Yantai Yuhuangding Hospital Affiliated to Qingdao Medical College, Yantai, Shandong 264000, P. R. China. Email:
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):1-5. doi: 10.3760/cma.j.issn.1003-9406.2015.01.001.
OBJECTIVE
To study polymorphisms of catechol-O-methyltransferase (COMT) and monoamine oxidase B (MAO-B) genes among Chinese patients with Parkinson's disease.
METHODS
Genotypes of the COMT and MAO-B genes of 1408 patients with Parkinson's disease was sequenced using Sanger method. And these patients were recruited by Chinese Parkinson Study Group from 29 research centers throughout the country.
RESULTS
The genotypic frequencies of COMT rs4680 AA, AG, GG were 8.9%, 42.0% and 49.1%. Those of rs4818 CC, CG, GG were 42.5%, 45.6% and 11.9%, respectively. The genotype frequencies of MAO-B rs1799836 A/AA, AG, G/GG were 74.4%, 14.1% and 11.5%, respectively. The haplotype formed by COMT rs4680 (GG) and MAO-B rs1799836 (A/AA) genotype has a frequency of 36.86%.
CONCLUSION
Polymorphisms of COMT and MAO-B genes has a unique characteristics among Chinese patients with Parkinson's disease. They may be related with differences in drug response in such patients.
目的
研究中国帕金森病患者中儿茶酚-O-甲基转移酶（COMT）和单胺氧化酶B（MAO-B）基因的多态性。
方法
采用桑格法对1408例帕金森病患者的COMT和MAO-B基因进行测序。这些患者由中国帕金森病研究组从全国29个研究中心招募。
结果
COMT rs4680位点AA、AG、GG基因型频率分别为8.9%、42.0%和49.1%。rs4818位点CC、CG、GG基因型频率分别为42.5%、45.6%和11.9%。MAO-B rs1799836位点A/AA、AG、G/GG基因型频率分别为74.4%、14.1%和11.5%。由COMT rs4680（GG）和MAO-B rs1799836（A/AA）基因型组成的单倍型频率为36.86%。
结论
COMT和MAO-B基因多态性在中国帕金森病患者中具有独特特征。它们可能与这类患者药物反应的差异有关。
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