Identification of deletion/duplication mutations in DMD gene by multiple ligation probe amplification and denaturing high-performance liquid chromatography / 中国医学科学院学报
Acta Academiae Medicinae Sinicae
; (6): 83-86, 2007.
Article
在 Zh
| WPRIM
| ID: wpr-230027
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To 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.</p><p><b>METHODS</b>MLPA technique was applied to detect exon deletions and duplications previously confirmed by denaturing high-performance liquid chromatography (DHPLC).</p><p><b>RESULTS</b>From 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.</p><p><b>CONCLUSION</b>Compared 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.</p>
全文:
1
索引:
WPRIM
主要主题:
Chromatography, High Pressure Liquid
/
Gene Deletion
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Genetic Predisposition to Disease
/
Gene Duplication
/
Muscular Dystrophy, Duchenne
/
Nucleic Acid Amplification Techniques
/
Genetics
/
Methods
/
Mutation
研究类型:
Diagnostic_studies
限制:
Female
/
Humans
/
Male
语言:
Zh
期刊:
Acta Academiae Medicinae Sinicae
年:
2007
类型:
Article