COL6A3基因多态性与中国散发孤立性肌张力障碍的关联

doi:10.3969/j.issn.1006-9771.2017.00.004

《中国康复理论与实践》 ›› 2018, Vol. 24 ›› Issue (3): 338-341.doi: 10.3969/j.issn.1006-9771.2017.00.004

COL6A3基因多态性与中国散发孤立性肌张力障碍的关联

马凌燕, 马惠姿, 冯涛

首都医科大学附属北京天坛医院神经变性病科,北京市 100050

收稿日期:2017-11-14 修回日期:2017-12-20 出版日期:2018-03-25 发布日期:2018-03-27
通讯作者: 冯涛。E-mail: happyft@sina.com
作者简介:马凌燕(1985-),女,汉族,山东青岛市人,博士,医师,主要研究方向：帕金森病及运动障碍病遗传、分型、脑网络等。通讯作者：冯涛,男,博士,主任医师。
基金资助:
1.北京市自然科学基金项目(No. 7164254); 2.国家自然科学基金面上项目(No. 81571226); 3.北京市生物医药与生命科学创新培育研究资助项目(No. Z151100003915117); 4.首都市民健康项目培育资助项目(No.Z151100003915150)

Association of Polymorphisms of COL6A3 Gene with Sporadic Isolated Dystonia in China

MA Ling-yan, MA Hui-zi, FENG Tao

Department of Neurodegeneration, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, China

Received:2017-11-14 Revised:2017-12-20 Published:2018-03-25 Online:2018-03-27
Contact: FENG Tao. E-mail: happyft@sina.com
Supported by:
Supported by Beijing Natural Science Foundation (No. 7164254), National Natural Science Foundation of China (General) (No. 81571226), Beijing Project for Innovation in Bio-medicine and Life Science (No. Z151100003915117) and Projects for Public Health in Capital (No. Z151100003915150)

摘要/Abstract

摘要： 目的探讨COL6A3基因41外显子多态性与中国散发孤立性肌张力障碍的关系。方法 2014年9月至2017年8月本院门诊就诊的散发孤立性肌张力障碍患者127例(病例组),以及同期130例性别、年龄匹配的健康体检者(对照组),留取外周血提取基因组DNA。在千人基因组数据库中筛选COL6A3基因41外显子目标单核苷酸多态性(SNP),采用限制性片段长度多态性聚合酶链反应检测COL6A3基因多态性。比较组间基因型及等位基因分布。结果共筛选到COL6A3基因41外显子2个SNP位点,分别为rs1131296和rs2270669。这2个SNP基因型和等位基因分布,患者组与对照组间无显著性差异(χ²<1.829, P>0.05),患者组各基因型间发病年龄也无显著性差异(P>0.05)。结论 COL6A3基因41外显子多态性并非中国孤立性肌张力障碍的遗传易感因素。

关键词: 孤立性肌张力障碍, COL6A3, 多态性, 基因

Abstract: Objective To explore the relationship between the polymorphisms of exon 41 in COL6A3 and sporadic isolated dystonia in China. Methods A total of 127 outpatients with isolated dystonia and other 130 age- and gender-matched healthy controls were collected their blood samples. The single nucleotide polymorphism (SNP) was screened from 1000 Genomes Project. Genotype was detected with polymerase chain reaction-restriction fragment length polymorphism and the genotype and allele distribution were compared between the patients and the controls. Results Two SNPs in exon 41 in COL6A3 were found, named rs1131296 and rs2270669. There was no difference between the patients and the controls in both genotype and allele (χ²<1.829, P>0.05). There was no difference in the age of onset among the patients with various genotypes (P>0.05).Conclusion Polymorphism of exon 41 in COL6A3 gene may not contribute to risk of sporadic isolated dystonia in China.

Key words: isolated dystonia, COL6A3, polymorphism, gene

中图分类号:

R742.3

马凌燕, 马惠姿, 冯涛. COL6A3基因多态性与中国散发孤立性肌张力障碍的关联[J]. 《中国康复理论与实践》, 2018, 24(3): 338-341.

MA Ling-yan, MA Hui-zi, FENG Tao. Association of Polymorphisms of COL6A3 Gene with Sporadic Isolated Dystonia in China[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2018, 24(3): 338-341.

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COL6A3基因多态性与中国散发孤立性肌张力障碍的关联

Association of Polymorphisms of COL6A3 Gene with Sporadic Isolated Dystonia in China

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