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Omi/Htra2基因1195G/A多态性与帕金森病的相关性研究 被引量:3

Association of 1195G/A polymorphism in extron region of Htra2 gene with Parkinson's disease
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摘要 目的探讨中国汉族人群Omi/Htra2基因编码区1195G/A位点的单核苷酸多态性(SNP)与帕金森病(PD)发病的关系。方法采用聚合酶链反应-限制性酶切片段长度多态性(PCR-RFLP)技术,检测56例PD患者和109例健康人的Omi/Htra2基因编码区1195G/A位点多态性的基因型及等位基因频率。结果 56例PD病例中Omi/Htra2基因1195G/G基因型55例,G/A杂合子1例;对照组中109例全部为G/G基因型。结论中国汉族人群Omi/Htra2基因编码区1195G/A杂合子可能是PD的患病因素。 Objective To evaluate the association between the single-nucleotide polymorphism(SNP) of 1195G/A in the coding region of Omi/Htra2 gene and Parkinson's disease in Han population of China.Methods The restriction fragment length polymorphism(PCR-RFLP) was used to determine the genotype and allele frequency of 1195G/A polymorphism in the coding region of Omi/Htra2 gene in the case group(n=56) and healthy control group(n=109).Results 55 PD patients belonged to 1195G/G genotype,and one to 1195G/A genotype.All the 109 patients of control group belonged to 1195G/G genotype.Conclusion 1195G/A heterozygous in the coding region of Omi/Htra2 gene in Han population of China may be pathogenesis of PD.
出处 《中风与神经疾病杂志》 CAS CSCD 北大核心 2012年第4期314-317,共4页 Journal of Apoplexy and Nervous Diseases
基金 广东省医学科学技术研究基金(编号:A2007453)
关键词 Omi/Htra2基因 帕金森病 单核苷酸多态性 Omi/Htra2 Parkinson's disease(PD) Single nucleotide polymorphism(SNP)
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