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。
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.
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