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A method for detecting mutations in the gene p.Q368X MIOTSILINA (MYOC), causes the development of primary open angle glaucoma

机译:一种检测p.Q368X MIOTSILINA(MYOC)基因突变的方法,导致原发性开角型青光眼的发展

摘要

A method of detecting mutations p.Q368X (s.1102S T) MYOC gene, accompanied by the development of hereditary forms of primary open angle glaucoma, comprising isolating DNA from peripheral blood lymphocytes by phenol-chloroform extraction, conducting PCR with the ability to analyze the endpoint fluorescence characterized in that the amplified portion MYOC gene in the presence of two oligonucleotide sequences dye EvaGreen®: Q368X - F, GTCCAGAACTGTCATAAGATA, Q368X - R, CCAAGAATACGGGAACTG, flanking a region potentially containing p.Q368X mutation (c.1102S T) in the gene MYOC .
机译:一种检测p.Q368X(s.1102S> T)MYOC基因突变的方法,伴随着遗传性形式的原发性开角型青光眼的发展,该方法包括通过酚-氯仿提取从外周血淋巴细胞中分离DNA,并进行具有分析终点荧光,其特征在于存在两个寡核苷酸序列的扩增部分MYOC基因使EvaGreen®染色:Q368X-F,GTCCAGAACTGTCATAAGATA,Q368X-R,CCAAGAATACGGGAACTG,位于可能含有p.Q368X突变的区域侧翼(c.1102S> )在基因MYOC中。

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