Identification of deletion/duplication mutations in DMD gene by multiple ligation probe amplification and denaturing high-performance liquid chromatography.
- Author:
Ben-Chang SHEN
1
;
Cheng ZHANG
;
Xiao-Fang SUN
;
Shao-Ying LI
Author Information
- Publication Type:Journal Article
- MeSH: Chromatography, High Pressure Liquid; Female; Gene Deletion; Gene Duplication; Genetic Predisposition to Disease; Humans; Male; Muscular Dystrophy, Duchenne; genetics; Mutation; Nucleic Acid Amplification Techniques; methods
- From: Acta Academiae Medicinae Sinicae 2007;29(1):83-86
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo compare the effectiveness of using multiple ligation probe amplification (MLPA) and denaturing high-performance liquid chromatography (DHPLC) in screening the exon deletions and duplications of the DMD gene.
METHODSMLPA technique was applied to detect exon deletions and duplications previously confirmed by denaturing high-performance liquid chromatography (DHPLC).
RESULTSFrom October 2004 to October 2005, 22 unrelated DMD probands and their possible female relatives with clinical diagnosis with dystrophinopathy at our hospital entered this study. Both DHPLC and MPLA detected DMD gene depletion in 11 probands and DMD duplications in 3 probands. MLPA detected deletions and duplications in 2 probands, which were not detected by DHPLC. MLPA also successfully identified the carriage status of the potential female carriers of the probands.
CONCLUSIONCompared with DHPLC and traditional PCR techniques, MLPA is a superior tool to analyze the deletions and duplications in affected males as well as in the identification of the carriage status of potential females carriers.
