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目的:探究转化生长因子B1基因单核苷酸多态性及该基因与烟雾病的相关性。方法研究项目选取经确诊为烟雾病的41例欧洲各地患者作为观察组研究对象,并以来自德国的68例健康志愿者作为对照组研究对象。采取聚合酶链反应扩增与DNA测序方法对两组转化生长因子B1基因单核苷酸多态性及与烟雾病关系进行探究。结果:转化生长因子B1的外显子序列中存在4个基因多态性,两组单核苷酸多态性均与哈迪温伯格平衡规律预期结果相符,而对照组SNPrs1800471多态性位点的等位基因与预期结果发生偏离,在95%可信区间,OR值小于1,表示单核苷酸多态性为疾病的保护因素。结论:本次研究虽排除转化生长因子B1是烟雾病的致病因素的可能,但不排除其存在一定的相关性,需要进一步探索研究。
Objective: To investigate the single nucleotide polymorphism of transforming growth factor B1 gene and its relationship with moyamoya disease. METHODS: A total of 41 European patients diagnosed with moyamoya disease were selected as the observation group and 68 healthy volunteers from Germany as the control group. Polymerase chain reaction amplification and DNA sequencing were used to investigate the relationship between single nucleotide polymorphisms of TGF-β1 and moyamoya disease. RESULTS: There were 4 gene polymorphisms in the exon of transforming growth factor B1, and both SNPs were in good agreement with the expected results of Hadibinger equilibrium. However, SNP rs1800471 polymorphism The allele at the point deviates from the expected result, and the OR value is less than 1 at the 95% confidence interval, indicating that SNP is a protective factor for the disease. Conclusion: Although this study excluded the possibility that transforming growth factor B1 is the causative agent of moyamoya disease, it does not rule out the existence of a certain correlation between it and further exploration is needed.