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首页> 外文期刊>Journal of International Medical Research >Distribution of Common Methylenetetrahydrofolate Reductase Gene Mutations in Patients with Obstructive Sleep Apnoea
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Distribution of Common Methylenetetrahydrofolate Reductase Gene Mutations in Patients with Obstructive Sleep Apnoea

机译:阻塞性睡眠呼吸暂停患者常见的亚甲基四氢叶酸还原酶基因突变的分布

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Homocysteine levels have been investigated in patients with obstructive sleep apnoea syndrome (OSAS), a syndrome associated with a high level of comorbid cardiovascular disease (CVD). While significant increases in homocysteine levels have been observed in OSAS patients with CVD, no increases have been noted in OSAS patients without CVD. This study was designed to investigate the methylenetetrahydrofolate reductase (MTHFR) gene, which is essential for homocysteine metabolism and has been shown to have a causal role in the development of CVD. Eighty subjects, 30 diagnosed with OSAS by polysomnography and 50 controls (healthy volunteers with no symptoms of OSAS) were enrolled. Two mutations in the MTHFR gene were investigated using polymerase chain reactions and restriction fragment length polymorphisms. No significant differences were found in mean age, body mass index, homocysteine levels, or MTHFR allele or genotype distributions between patient and control groups.
机译:已对阻塞性睡眠呼吸暂停综合症(OSAS)患者的同型半胱氨酸水平进行了研究,该综合征与高水平的合并症心血管疾病(CVD)相关。尽管在患有CVD的OSAS患者中观察到同型半胱氨酸水平显着增加,但在未患有CVD的OSAS患者中未发现升高。这项研究旨在研究亚甲基四氢叶酸还原酶(MTHFR)基因,该基因对于高半胱氨酸代谢至关重要,并且已证明在CVD的发展中具有因果作用。入选了80名受试者,其中30名经多导睡眠图诊断为OSAS,50名对照(无OSAS症状的健康志愿者)入选。使用聚合酶链反应和限制性片段长度多态性研究了MTHFR基因中的两个突变。患者和对照组之间的平均年龄,体重指数,同型半胱氨酸水平或MTHFR等位基因或基因型分布没有显着差异。

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