Deletion and Duplication in the DMD Gene Detected by MLPA
10.3969/j.issn.1671-7414.2017.04.004
- VernacularTitle: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
- Author:
Ying LU
;
Shunchang SUN
- Keywords:
multiplex ligation-dependent probe amplification;
DMD gene;
exon;
deletion;
duplication
- From:
Journal of Modern Laboratory Medicine
2017;32(4):12-15
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect exon deletions/duplications in 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 for genetic 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 caused by DelEx45-50 mutation,while the pedigree with Becker muscular dystrophy was caused by Dup Ex3-4 mutation.Patients and carriers were diagnosed by multiplex ligation-dependent probe amplification method.Conclusion Exon deletions/duplications in the DMD gene can be indicated by probe copies using 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.
