| Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene |
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| 作者姓名： | 李少英 孙筱放 黎青 张慧敏 蒋永华 |
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| 作者单位： | Institute of Obstetrics and Gynecology, Third Affiliated Hospital, Guangzhou Medical College, Guangzhou510150, China |
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| 摘 要： | Objective：Duchenne muscular dystrophy （DMD） and Becker muscular dystrophy （BMD） are X-linked disorders caused by mutations in the dystrophin gene. The majority of recognized mutations are copy number changes of individual exons. The objective of the present study was to assess the multiplex ligation-dependent probe amplification （MLPA） effects of detection of gene mutations. Methods： Samples of 20 control males and 80 males and their mothers referred to our diagnostic facility on the clinical suspi- cion of DMD or BMD were tested by MLPA and multiplex PCR. Results ： The mean DQs for all peak of 20 control male samples was 1.02 （range from 0.83 to 1.21） by MLPA. Deletions or duplications were iden- tified in 6 out of 31 families that had been previously tested as negative by multiplex PCR. One case of complex rearrangement involving a duplication of two regions： dupEX3-9 and dupEX 17-41 were found by MLPA. Conclusions： MLPA is a highly sensitive method and rapid alternative to multiplex PCR for detec- tion of DMD and BMD.
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| 关 键 词： | 杜兴肌营养不良 贝克尔肌营养不良 营养不良基因 分子诊断技术 |
| 收稿时间： | 2007-09-20 |
| 修稿时间： | 2007-11-20 |
Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene |
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| LI Shao-ying,SUN Xiao-fang,LI Qing,ZHANG Hui-min,JIANG Yong-hua.Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene[J].Journal of Medical Colleges of PLA(China),2007,22(6):341-346. |
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| Authors: | LI Shao-ying SUN Xiao-fang LI Qing ZHANG Hui-min JIANG Yong-hua |
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| Institution: | [1]Institute of Obstetrics and Gynecology, Third Affiliated Hospital, Guangzhou Medical College, Guangzhou510150, China |
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| Abstract: | ObjectiveDuchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked disorders caused by mutations in the dystrophin gene. The majority of recognized mutations are copy number changes of individual exons. The objective of the present study was to assess the multiplex ligation-dependent probe amplification (MLPA) effects of detection of gene mutations. Methods Samples of 20 control males and 80 males and their mothers referred to our diagnostic facility on the clinical suspicion of DMD or BMD were tested by MLPA and multiplex PCR. Results The mean DQs for all peak of 20 control male samples was 1.02 (range from 0.83 to 1.21) by MLPA. Deletions or duplications were identified in 6 out of 31 families that had been previously tested as negative by multiplex PCR. One case of complex rearrangement involving a duplication of two regions dupEX3-9 and dupEX 17-41 were found by MLPA. Conclusions MLPA is a highly sensitive method and rapid alternative to multiplex PCR for detection of DMD and BMD. |
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| Keywords: | duchenne muscular dystrophy becker muscular dystrophy multiplex ligation-dependent probe amplification molecular diagnostic techniques |
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