[1]陆 盈,孙顺昌.MLPA技术对Duchenne肌营养不良症患者基因外显子缺失和重复的诊断价值[J].现代检验医学杂志,2017,32(04):12-15.[doi::10.3969/j.issn.1671-7414.2017.04.004]
　LU Ying,SUN Shun-chang.Deletion and Duplication in the DMD Gene Detected by MLPA[J].Journal of Modern Laboratory Medicine,2017,32(04):12-15.[doi::10.3969/j.issn.1671-7414.2017.04.004]
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MLPA技术对Duchenne肌营养不良症患者基因外显子缺失和重复的诊断价值()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第32卷
期数:
2017年04期
页码:
12-15
栏目:
论著
出版日期:
2017-07-25

文章信息/Info

Title:
Deletion and Duplication in the DMD Gene Detected by MLPA
文章编号:
1671-7414(2017)04-012-04
作者:
陆 盈1; 孙顺昌2
1.上海交通大学医学院附属瑞金医院检验科,上海 200025; 2.上海交通大学医学院附属瑞金医院北院检验科,上海 201801
Author(s):
LU Ying1; SUN Shun-chang2
1.Departmentof Clinical Laboratory, Ruijin Hospital Affiliated to Medical School of Shanghai Jiaotong University, Shanghai 200025,China; 2.Department of Clinical Laboratory,Ruijin Hospital North Affiliated to Medical School of Shanghai Jiaotong University,Shanghai 201801,China
关键词:
多重连接依赖探针扩增;  DMD基因;  外显子;  缺失;  重复
分类号:
R746.2; Q503
DOI:
:10.3969/j.issn.1671-7414.2017.04.004
文献标志码:
A
摘要:
目的 使用多重连接依赖探针扩增技术对Duchenne肌营养不良症和Becker肌营养不良症家系成员的DMD基因进行外显子缺失和重复检测,探讨多重连接依赖探针扩增技术对Duchenne肌营养不良症患者和Becker肌营养不良症患者的诊断价值。方法 应用多重连接依赖探针扩增技术检测1个Duchenne肌营养不良症家系成员和1个Becker肌营养不良症家系成员DMD基因的全部外显子缺失和重复,对家系成员进行基因诊断。结果 Duchenne肌营养不良症家系患者是DMD基因外显子45～50缺失所致,Becker肌营养不良症家系患者是外显子3～4重复所致。两个家系中的患者及致病基因携带者均得到明确诊断。结论 在规范操作的条件下,多重连接依赖探针扩增技术检测的探针拷贝数可预示DMD基因的外显子缺失和重复,因此多重连接依赖探针扩增技术可作为临床对DMD基因外显子缺失和重复的首选检测方法。
Abstract:
Objective To detect exon deletions/duplicationsin the DMD gene in Duchenne and Becker muscular dystrophy pedigrees using multiplex ligation-dependent probe amplification method,and explore the usefulness of multiplex ligation-dependent probe amplification analysis as a method forgenetic diagnostics in patients with Duchenne and Becker muscular dystrophy.Methods Exon deletions/duplications in the DMD gene were analyzed by multiplex ligation-dependent probe amplification for two pedigrees with Duchenne muscular dystrophy and Becker muscular dystrophy.Patients and carriers were diagnosed by multiplex ligation-dependent probe amplification.Results The pedigree with Duchenne muscular dystrophy was causedby DelEx45-50 mutation,while the pedigree with Becker muscular dystrophy wascaused by Dup Ex3-4 mutation.Patients and carriers were diagnosed by multiplexligation-dependent probe amplification method.Conclusion Exon deletions/duplications in the DMD gene can be indicated by probe copiesusing multiplex ligation-dependent probe amplification method under standard operating procedure.Multiplex ligation-dependent probe amplification should be considered as a rapid and accurate clinical method for an initial mutation analysis of DMD gene with exon deletions/duplications.

参考文献/References:

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备注/Memo

备注/Memo:
作者简介:陆 盈(1975-),女,本科,主管技师,E-mail:luying_486@sina.com.cn。 通讯作者:孙顺昌,主任技师,E-mail:shunchangsun@aliyun.com。
更新日期/Last Update: 1900-01-01