Method for detecting deletion and/or duplication of exons in DMD gene

Abstract

The invention relates to a method for detecting deletion and / or duplication of exons in DMD gene. The method is implemented by designing a probe using the sequence information of the known DMD gene, sequencing a DNA fragment which is obtained by capturing and enrichment, and analyzing to obtain exon deletion information of DMD gene.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to the analysis of DMD gene and its method. Background technique [0002] The DMD gene is the largest human gene discovered so far, and the gene sometimes undergoes mutations, for example, 1:3500 mutations of this gene appear in newborn male babies. Large fragments of one or more exons within the DMD gene are deleted, involving two hotspot regions (exons 3-7 and exons 44-55) in the proximal and central parts of the gene. Large fragments of one or more exons within the DMD gene are duplicated, accounting for approximately 6% of DMD mutations. DMD gene occurs more point mutations, deletions and insertions of small fragments. [0003] Currently, DMD gene detection methods mainly include the following: microarray comparative genomic hybridization (a-CGH), MLPA, MAPH, SCAIP, multiplex PCR, Southern blotting, Sanger sequencing and second-generation sequencing. For high-throughput detectio...

AI Technical Summary

Problems solved by technology

For high-throughput detection of DMD gene exon deletions and duplications, the disadvantages of these detection methods are low throughput and poor efficiency.

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