结合MLPA技术与高通量测序技术对DMD患者进行基因检测  

Coupling multiplex ligation-dependent probe amplification with Next Generation Sequencing analysis for Duchenne muscular dystrophy

作　　者：徐晓昕[1] 吴维青[1] 徐志勇[1] 王勤[1] 尹珊珊[1] 姜楠[1] 蔡筠[1] 谢建生[1] 

机构地区：[1]深圳市妇幼保健院出生缺陷预防控制重点实验室,广东深圳518048

出　　处：《中国优生与遗传杂志》2016年第5期16-18,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨多重连接探针扩增技术(MLPA)与高通量测序技术(NGS)对假性肥大型肌营养不良(DMD)患者基因检测的临床应用价值,为进一步创建经济可靠的、高效的DMD诊断技术奠定技术平台。方法使用MLPA技术对66名假性肥大型肌营养不良患者进行DMD基因的缺失或重复检测,然后应用NGS技术对未检测出DMD基因缺失或重复的患者进行DMD基因测序。结果 49例为DMD基因外显子缺失,3例为DMD基因外显子重复,14例为DMD基因微小突变。结论结合MLPA技术与高通量测序技术可高效检测DMD基因缺失、重复及微小突变,更好地为DMD患者做出临床诊断。Objective：In oder to establish a economic,reliable and efficient technology platform of Duchenne muscular dystrophy（DMD）,Discuss the clinical value of multiplex ligation-dependent probe amplification（MLPA）and nextgeneration sequencing（NGS）for DMD. Merhods：66 patients of DMD were detected deletion and duplication by MLPA.Then the negative patients of MLPA were analyzed by NGS. Results：49 cases were deletion of DMD exon, 3 cases were duplication DMD exon,and 14 cases were DMD mutation. Conclusion：Coupling MLPA with NGS is a cost-effective approach to detect DMD.

关 键 词：假性肥大型肌营养不良 多重连接探针扩增技术 高通量测序技术 

分 类 号：R746.2[医药卫生—神经病学与精神病学]