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2009•Chinese Journal of Birth Health & HeredityRequires access

Detection of Duchenne/Becker muscular dystrophy gene deletions with multiplex-PCR.

Zhou Yong-an

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Abstract

Objective:To search for the extent of DMD gene deletion Chinese patients with DMD and BMD.To analyses the deletion distirbution of Dystrophin gene in Duchenne/Becker muscular dystrophy(DMD/BMD) patients.To analyses the experimental method.Methods:20 patients with DMD/BMD people were screened with multiplex-PCR(mPCR) using 28 pairs of primers.Results:Different exon deletions were detected in 12 cases(60%),8 cases(40%) were not detected.The deletions of 12 cases were located in exons 44-52,4 in 5′end of the gene.Conclusion: Gene deletion is mainly distirbuted in two hot spot around the central domain,also located in 5′end of the gene.

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What this paper is about

Objective:To search for the extent of DMD gene deletion Chinese patients with DMD and BMD.To analyses the deletion distirbution of Dystrophin gene in Duchenne/Becker muscular dystrophy(DMD/BMD) patients.To analyses the experimental method.Methods:20 patients with DMD/BMD people were screened with multiplex-PCR(mPCR) using 28 pairs of primers.Results:Different exon deletions were detected in 12 cases(60%),8 cases(40%) were not detected.The deletions of 12 cases were located in exons 44-52,4 in 5′end of the gene.Conclusion: Gene deletion is mainly distirbuted in two hot spot around the central domain,also located in 5′end of the gene.

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Available abstract

Objective:To search for the extent of DMD gene deletion Chinese patients with DMD and BMD.To analyses the deletion distirbution of Dystrophin gene in Duchenne/Becker muscular dystrophy(DMD/BMD) patients.To analyses the experimental method.Methods:20 patients with DMD/BMD people were screened with multiplex-PCR(mPCR) using 28 pairs of primers.Results:Different exon deletions were detected in 12 cases(60%),8 cases(40%) were not detected.The deletions of 12 cases were located in exons 44-52,4 in 5′end of the gene.Conclusion: Gene deletion is mainly distirbuted in two hot spot around the central domain,also located in 5′end of the gene.

Key concepts: Duchenne muscular dystrophy, Exon, Multiplex polymerase chain reaction, Gene, Muscular dystrophy, Genetics, Biology, Molecular biology

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Detection of Duchenne/Becker muscular dystrophy gene deletions with multiplex-PCR. — Research Paper | ScholarLens