Deletion and Duplication in the DMD Gene Detected by MLPA / 现代检验医学杂志
Journal of Modern Laboratory Medicine
;
(4): 12-15, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-610917
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Journal of Modern Laboratory Medicine
Ano de publicação:
2017
Tipo de documento:
Artigo
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