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首页> 外文期刊>Journal of clinical neuroscience: official journal of the Neurosurgical Society of Australasia >Association of Parkinson's disease with six single nucleotide polymorphisms located in four PARK genes in the northern Han Chinese population
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Association of Parkinson's disease with six single nucleotide polymorphisms located in four PARK genes in the northern Han Chinese population

机译：帕金森氏病与北方汉族人群中位于四个PARK基因中的六个单核苷酸多态性的关联

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摘要

Parkinson's disease (PD) has widely been reported to be associated with mutations in the PARK genes. To investigate potential genetic risk factors for PD in a northern Han Chinese population, six single nucleotide polymorphisms (SNP) (R366W, V380L, P196S, R1628P, G2385R and R461W) located in four PARK genes were multiplex-amplified in two independent polymerase chain reaction (PCR) systems. Restriction fragment length polymorphisms (RFLP) were subsequently genotyped with Hae III endonuclease digestion in samples from 202 patients with PD and 212 control participants. High-throughput, multiplexed PCR-RFLP assays were able to accurately identify all six SNP. The genotypic frequency of G2385R in PARK8 was significantly different between the patient and control groups; however, the remaining SNP were not associated with PD. No heterogeneity was observed in the R461W site, and only one P196S site was found in the patient group. The polymorphic sites R366W and V380L and R1628P and G2385R were not in linkage disequilibrium. Carriers of 2385R presented at a higher Hoehn-Yahr stage compared to non-carriers. This study demonstrated an association of the G2385R allele with risk for PD in a northern Han Chinese population.
机译：广泛报道帕金森氏病（PD）与PARK基因突变有关。为了研究北方汉族人群PD的潜在遗传危险因素，在两个独立的聚合酶链反应中对位于四个PARK基因中的六个单核苷酸多态性（SNP）（R366W，V380L，P196S，R1628P，G2385R和R461W）进行了多重扩增。 （PCR）系统。随后用Hae III核酸内切酶消化对202例PD患者和212例对照参与者的样品进行限制性片段长度多态性（RFLP）基因分型。高通量，多重PCR-RFLP分析能够准确鉴定所有六个SNP。患者和对照组中PARK8中G2385R的基因型频率显着不同。但是，其余的SNP与PD无关。在R461W位点未观察到异质性，并且在患者组中仅发现一个P196S位点。 R366W和V380L和R1628P和G2385R的多态位点没有连锁不平衡。与非载波相比，2385R载波呈现在更高的Hoehn-Yahr阶段。这项研究表明，在中国北方汉族人群中，G2385R等位基因与PD风险相关。

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