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DHPLC在检测Miyoshi肌病家系致病基因突变中的应用 被引量：1

Application of Denaturing High-performance Liquid Chromatography for Detecting Mutations of DYSF Gene
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摘要 目的检测Miyoshi肌病家系成员的DYSF基因突变,探讨变性高效液相色谱分析法(DHPLC)在基因研究中的效能。方法用RT-PCR技术扩增DYSF基因的编码序列,利用变性高效液相色谱分析技术(DHPLC)对PCR产物进行突变筛选,出现异常峰型的片段进行核苷酸序列测定,明确突变位点。结果患者DYSF基因存在6429delG突变。结论DHPLC能有效地用于基因突变的检测,该方法快速高效,可作为大样本筛查突变位点的一种便捷可靠手段。 Objective To identify the point mutation of DYSF gene in a miyoshi myopathy family and observe the value of denaturing high performance liquid chromatography （DHPLC）. Methods mRNA from peripheral blood was amplified by the RT-PCR in a Chinese Miyoshi myopathy pedigree. The PCR products were analyzed by denaturing high-performance liquid chromatography （DHPLC）. The samples with abnormal profiles were sequenced. Results Sequencing revealed a novel homozygous mutation, a 6 429delG, on exon 53 of the DYSF gene for the patients. Conclusion The DHPLC technique provides an efficient, sensitive and rapid method for detecting mutations of DYSFgene.
作者 张炳峰 牛琦 陈晓婷
机构地区 南京医科大学第一附属医院临床检验中心 南京医科大学第一附属医院神经内科
出处 《实用临床医药杂志》 CAS 2007年第4期43-45,共3页 Journal of Clinical Medicine in Practice
关键词 DYSF基因 突变 MIYOSHI肌病 变性高效液相色谱 DYSF gene mutation Miyoshi myopathy denaturing high-performance liquid chromatography
分类号 R685 [医药卫生—骨科学]
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参考文献11

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实用临床医药杂志
2007年 第4期

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