中国康复理论与实践2018，Vol.24Issue(3)：338-341,4.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
Association of Polymorphisms of COL6A3 Gene with Sporadic Isolated Dystonia in China
摘要
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 be-tween 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.关键词
孤立性肌张力障碍/COL6A3/多态性/基因Key words
isolated dystonia/COL6A3/polymorphism/gene分类
医药卫生引用本文复制引用
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):338-341,4.基金项目
北京市自然科学基金项目(No.7164254) （No.7164254）
国家自然科学基金面上项目(No.81571226) （No.81571226）
北京市生物医药与生命科学创新培育研究资助项目(No.Z151100003915117) （No.Z151100003915117）
首都市民健康项目培育资助项目(No.Z151100003915150)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) （No.Z151100003915150）
