河南省杜氏肌营养不良患者dystrophin基因突变的MLPA检测  

Identification of deletions and duplications of the dystrophin gene in Duchenne muscular dystrophy patients from Henan by MLPA

作　　者：王凤羽 孙伟伟[2] 李聪敏 常明秀 丰慧根[2] 马林先[2] 

机构地区：[1]河南省人口和计划生育科学技术研究院,河南省人口出生缺陷干预技术研究重点实验室,郑州450002 [2]新乡医学院生命科学技术系,新乡453000

出　　处：《郑州大学学报（医学版）》2011年第6期842-846,共5页Journal of Zhengzhou University(Medical Sciences)

基　　金：河南省社会公益重大项目资助课题081100911100

摘　　要：目的:探讨多重连接依赖式探针扩增技术(MLPA)在杜氏肌营养不良(DMD)患者基因诊断中的应用价值,了解河南省DMD患者dystrophin基因突变热点。方法:采用MLPA检测48例河南省DMD患者及13例缺失型患者母亲dystrophin基因突变。结果:48例DMD患者中,有31例(64.6%)检测出dystrophin基因外显子缺失,4例(8.3%)检测出外显子重复。河南省DMD患者dystrophin基因缺失/重复热点区域为第46～53外显子和第8～18外显子。13例患者母亲有11人检测出杂合突变,突变类型与患者相同,余2人未检测出突变。河南省DMD患者基因外显子缺失、重复分布与北京相似(χ2=0.256,P=0.880),但与香港和台湾地区有着较大差异(χ2分别为11.470和11.303,P分别为0.003和0.004)。结论:MLPA在DMD患者及携带者基因诊断中有很高的应用价值。河南省DMD患者dystrophin基因的突变热点与国内其他地区有差异。Aim：To evaluate the efficacy of multiplex ligation-dependent probe amplification technique（MLPA）in gene diagnosis of Duchenne muscular dystrophy（DMD）patients,and comprehend frequency of deletion and duplication of every exon in dystrophin gene in Henan DMD patients.Methods：Applying MLPA,deletions and duplications of dystrophin gene in 48 Henan DMD patients and 13 mothers of DMD patients with deletion were detected.Results：In 48 patients,exon deletion was detected in 31 patients（64.6%）and exon duplication was detected in 4 patients（8.3%）.The mutational hot spot regions of deletion and duplication was exons 46～53 and exons 8～18 in dystrophin gene in the 48 Henan DMD patients.Heterozygous mutations which were similar to their children were detected in 11 out of 13 mothers.The frequency of deletion and duplication of dystrophin gene in Henan DMD patients was similar to those from Beijing（χ2=0.256,P= 0.880）,but different from those from Hong Kong and Taiwan（χ2=11.470 and 11.303,P=0.003 and 0.004）.Conclusion：MLPA is useful in gene diagnosis of DMD patients and female carriers.The hot spot of deletion and duplication of dystrophin gene in Henan DMD patients is different from other regions of China.

关 键 词：河南省 杜氏肌营养不良 多重连接依赖式探针扩增技术 DYSTROPHIN基因 突变热点 

分 类 号：R746.2[医药卫生—神经病学与精神病学]