DNA微阵列对DMD基因缺失检测的分析  

Detection of deletions in the DMD gene by simple DNA microarray

作　　者：杜文津[1] 万琪[2] 吴保仁[2] 闫小君[3] 

机构地区：[1]空军总医院南楼五区,北京100036 [2]第四军医大学西京医院神经内科 [3]第四军医大学全军基因诊断研究所

出　　处：《脑与神经疾病杂志》2003年第2期65-68,共4页Journal of Brain and Nervous Diseases

摘　　要：目的:制备简易DNA微阵列检测DMD基因常见外显子缺失,作为一项新技术的方法学摸索,为开发更完善的DMD基因诊断芯片作准备。方法:应用分子克隆的方法扩增DMD基因18个常见易缺失外显子片段,以此作为探针制备出简易DNA微阵列,对DMD患者和健康对照的基因进行检测分析。结果:应用简易DNA微阵列检测出4例DMD患者具有不同程度的外显子缺失,其结果与PCR验证相符。对照满意。结论:DNA微阵列技术适用于DMD基因缺失检测,具有简便、高通量、灵敏等特点。Objective: Construct a kind of DNA microrray and detect the major deletion-prone exons in DMD gene by it. Methods: Amplify the major deletion-prone exon fragments of DMD gene by molecular clone. These fragments used as probes were printed and immobilized on slides for making DNA microarray. Detect four patients of DMD and an unaffected control by it. Results: It was shown that some series of exons in DMD gene were deleted with the DMD patients. The hybridization results were coincidental with the results of PCR. Conclusion: DNA microarray is suitable for the identification of DMD gene deletion diagnoses.

关 键 词：DNA微阵列 DMD 基因缺失 检测 肌营养不良 

分 类 号：R746.2[医药卫生—神经病学与精神病学]