Detection of duplication mutation and carriers of Duchenne/Becker muscular dystrophy by multiplex ligation-dependent probe amplification quantitative
10.3760/cma.j.issn.1006-7876.2011.08.015
- VernacularTitle:应用多重连接依赖性探针扩增定量技术检测假肥大型肌营养不良重复突变及携带状态
- Author:
Qifang LIN
;
Wanjin CHEN
;
Ning WANG
;
Zhiying WU
;
Minting LIN
;
Shenxing MURONG
- Publication Type:Journal Article
- Keywords:
Duchenne/Becker muscular dystrophy;
Dystrophin gene;
MLPA;
Quantitative studies
- From:
Chinese Journal of Neurology
2011;44(8):568-573
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the dystrophin gene in patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and their family members by multiplex ligation-dependent probe amplification (MLPA) method and to evaluate the application of this method in the mutations detection. Methods The whole dystrophin gene (79 exons) was analyzed by MLPA in 355 patients with DMD/BMD, the mothers of 46 patients with deletion mutation and the mothers of 8 patients with duplication mutation. The results were verified by PCR and sequencing when single exon deletion was found. Results One hundred and ninety cases were found to have deletion of one or more dystrophin exons, and 34 patients were identified to have duplication mutations. In 46 mothers of patients with deletion mutations, 28 were identified the mutations;and of 8 mothers of patients with duplication mutations, 6 were identified the mutations. There was no statistical significance between the carrier incidences in the 2 groups. A 23 bp deletion of AGGGAACAGATCCTGGTAAAGCA fragment in exon 17 was found in a patient. Conclusions Comparing with the traditional quantitative methods, MLPA can detect the deletion and duplication mutation in all the 79 exons of dystrophin gene in DMD/BMD patients, and can identify the carrier status in their family members. Furthermore, MLPA is not apt to be interfered by the concentration and purity of DNA template.
