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

An exon deletion and exon technology, which is applied in biochemical equipment and methods, and the determination/inspection of microorganisms, can solve the problems of low throughput and poor efficiency.

Active Publication Date: 2012-07-04
BGI GENOMICS CO LTD
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Problems solved by technology

For high-throughput detection of DMD gene exon deletions and duplications, the

Method used

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

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Embodiment

[0071] In this example, the sequences and names of several important primers are shown in Table 1.

[0072] Table 1

[0073]

[0074]The first primer (SEQ ID NO.1) and the second primer (SEQ ID NO.2) amplify the DNA double-stranded nucleic acid fragment with the adapter to obtain the first PCR amplification product, the first primer and the second primer There is an adapter binding region corresponding to the primer binding region of the adapter, and a sequencing probe binding region located outside the adapter binding region. The function of blocking molecule 1 (SEQ ID NO.3) and blocking molecule 2 (SEQ ID NO.4) is to complement the linker during sequence capture and avoid capturing non-specific sequences. The function of the third primer (SEQ ID NO.5) and the fourth primer (SEQ ID NO.6) is to amplify the captured specific DNA fragments in large quantities for the next step of sequencing.

[0075] This study recruited 1 DMD female carrier and 4 normal females, who signe...

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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...

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q2600/156C12Q1/68C12Q1/6883
Inventor 魏晓明蓝章彰谢姝琦瞿宁陈洋
Owner BGI GENOMICS CO LTD
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