自噬相关基因Atg7 rs11706903单核苷酸多态性与帕金森病的相关性

doi:10.3969/j.issn.1006-9771.2017.11.015

《中国康复理论与实践》 ›› 2017, Vol. 23 ›› Issue (11): 1313-1316.doi: 10.3969/j.issn.1006-9771.2017.11.015

自噬相关基因Atg7 rs11706903单核苷酸多态性与帕金森病的相关性

贺鹏¹, 赵西耀², 陈煜森³, 陈霄仪³, 郑伟明¹

1.广东省人民医院南海医院(佛山市南海区第二人民医院)神经内科,广东佛山市 528251;
2.浙江大学医学院附属第二医院建德分院神经内科,浙江建德市 311600;
3.广东医科大学附属医院神经内科,广东湛江市 524001

收稿日期:2017-03-29 出版日期:2017-11-25 发布日期:2017-12-10
通讯作者: 赵西耀(1980-),男,汉族,河南开封市人,硕士,主治医师,主要研究方向：神经疾病遗传学。E-mail: 13588181243@163.com。
作者简介:贺鹏(1972-),男,汉族,湖北丹江口市人,硕士,副主任医师,主要研究方向：神经疾病遗传学。

Association of Single Nucleotide Polymorphisms of Autophagy-related Genes Atg7 Site rs11706903 and Parkinson's Disease

HE Peng¹, ZHAO Xi-yao², CHEN Yu-sen³, CHEN Xiao-yi³, ZHENG Wei-ming¹

1. Department of Neurology, Guangdong General Hospital's Nanhai Hospital (the Second People's Hospital of Nanhai District Foshan City), Foshan, Guangdong 528251, China;
2. Department of Neurology, the Second Affiliated Hospital (Jiande Branch), School of Medicine, Zhejiang University, Hangzhou, Zhejiang 311600, China;
3. Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong 52400l, China;

Received:2017-03-29 Published:2017-11-25 Online:2017-12-10
Contact: ZHAO Xi-yao. E-mail: 13588181243@163.com

摘要/Abstract

摘要： 目的研究Atg7内含子区rs11706903单核苷酸多态性与帕金森病的关系。方法 2013年1月至2017年3月,收集130例帕金森病患者(病例组)和同期109例健康体检者(对照组)血样,采用聚合酶链反应-限制性片段长度多态性分析方法检测Atg7 rs11706903基因多态性。结果 rs11706903位点各基因型病例组基因型频率AA 10.00%、AC 52.31%、CC 37.69%,等位基因频率A 36.15%、C 63.85%;对照组基因型频率AA 7.34%、AC 49.54%、CC 43.12%,等位基因频率A 32.11%、C 67.89%。两组间无显著性差异(χ²<1.001, P>0.05)。结论 Atg7内含子区rs11706903单核苷酸多态性与帕金森病可能无关。

Abstract: Objective To investigate the relationship between the single nucleotide polymorphisms (SNP) of rs11706903, intron region of Atg7, and Parkinson's disease (PD).Methods From January, 2013 to March, 2017, 130 PD patients and 109 healthy subjects were recruited and collected the blood samples. SNPs of rs11706903 were detected with polymerase chain reaction restriction fragment length polymorphism.Results For the patients, the genotype frequencies of rs11706903 were AA 10.00%, AC 52.31% and CC 37.69%; and allele frequencies were A 36.15% and C 63.85%. For the healthy controls, the genotype frequencies of rs11706903 were AA 7.34%, AC 49.54% and CC 43.12%; and allele frequencies were A 32.11% and C 67.89%. There was no significant difference in frequencies of genetypes and alleles beteen two groups (χ²<1.001, P>0.05).Conclusion There might be no relationship between SNPs of Atg7 intron region rs11706903 and PD.

Key words: Parkinson's disease, autophagy-related genes, intron, single nucleotide polymorphisms, rs11706903

中图分类号:

R742.5

贺鹏, 赵西耀, 陈煜森, 陈霄仪, 郑伟明. 自噬相关基因Atg7 rs11706903单核苷酸多态性与帕金森病的相关性[J]. 《中国康复理论与实践》, 2017, 23(11): 1313-1316.

HE Peng, ZHAO Xi-yao, CHEN Yu-sen, CHEN Xiao-yi, ZHENG Wei-ming. Association of Single Nucleotide Polymorphisms of Autophagy-related Genes Atg7 Site rs11706903 and Parkinson's Disease[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2017, 23(11): 1313-1316.

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自噬相关基因Atg7 rs11706903单核苷酸多态性与帕金森病的相关性

Association of Single Nucleotide Polymorphisms of Autophagy-related Genes Atg7 Site rs11706903 and Parkinson's Disease

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