Rapid Screening for Japanese Dysferlinopathy by Fluorescent Primer Extension
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概要
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Objective Mutations in the dysferlin gene cause limb-girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy (MM), which are collectively named dysferlinopathy. Dysferlinopathy is the most frequent type of LGMD in the Japanese population. Molecular genetic analysis is essential for the diagnosis of dysferlinopathy because of its variable immunohistochemical patterns of biopsied muscles, including patterns similar to normal controls. The analysis of the entire dysferlin gene however, is time-consuming and laborious; therefore a simple and rapid screening method to detect hot spot mutations in the dysferlin gene is essential for the diagnosis of dysferlinopathy. Methods We previously showed that 4 mutations, c.937+1G>A, c.1566C>G, c.2997G>T and c.3373delG account for 50% of all the mutations identified in Japanese dysferlinopathy patients. We performed a one-tube multiplex PCR, followed by extension of primers for each mutation with a fluorescence-labeled dideoxynucleotide to screen the 4 hot spot mutations. Results The multiplex primer-extension reaction was developed on samples of known mutations. The extension products were represented as 4 different peaks that corresponded to a mutated nucleotide on electropherogram. Using the developed screening method, we were able to detect mutations in these hot spots in 3 samples out of 8 clinically suspected LGMD2B/MM patients in only approximately 8 hours. These 3 cases were definitely diagnosed as LGMD2B/MM by exonic sequencing. Conclusion We have developed a simple and rapid screening method which could facilitate the definitive diagnosis of dysferlinopathy, contributing to an understanding of the genotype-phenotype correlations for dysferlinopathy.
著者
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Suzuki Naoki
Department Of Cardiology Tokushima Red Cross Hospital
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Ohsawa Yutaka
Department Of Computer Sciences And Engineering Saitama University
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Sunada Yoshihide
Department Of Neurology Kawasaki Medical School
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Murakami Tatsufumi
Department Of Neurology Kumamoto University School Of Medicine
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Okada Tadashi
Department Of Chemistry Graduate School Of Engineering Science And Research Center For Materials Sci
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Takahashi Toshiaki
Department Of Anesthesiology Tokyo Medical University
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OHSAWA Yutaka
Department of Neurology, Kawasaki Medical School
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Aoki Masashi
Department of Electrical and Electronic Engineering, National Defense Academy, 1-10-20 Hashirimizu, Yokosuka, Kanagawa 239-8686, Japan
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Hayashi Saori
Department of Neurology, Kawasaki Medical School
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Rikimaru Mitsue
Department of Neurology, Kawasaki Medical School
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