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A method and device for detecting microdeletion in chromosome sts region

A technology of microdeletion and chromosome, applied in the field of genetic engineering

Active Publication Date: 2016-10-12
BGI GENOMICS CO LTD
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Problems solved by technology

[0004] However, in the face of a large number of samples or unreported microdeletions, PCR detection has great limitations; in addition, when there are many STS sites to be detected, especially for the detection of entire chromosome deletions, traditional PCR This demand can no longer be met, and a new technology is needed for research

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  • A method and device for detecting microdeletion in chromosome sts region
  • A method and device for detecting microdeletion in chromosome sts region
  • A method and device for detecting microdeletion in chromosome sts region

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Embodiment Construction

[0062] The present invention will be described in detail below in conjunction with the accompanying drawings and embodiments.

[0063] figure 1 It is a flow chart of an embodiment of the method for microdeletion detection based on chromosome sequence tag site STS region of the present invention, such as figure 1 As shown, the method includes:

[0064] Step 101: Select the STS region on the chromosome, and design corresponding capture probes according to the DNA sequence of the STS region.

[0065] STS (sequence-tagged site) sequence tag site is a short, single-copy DNA sequence that is clearly positioned on the genome, serves as a landmark and can be amplified by PCR, and can be uniquely manipulated. It is used to generate mapping sites, that is, to determine The sequence of a series of STSs can be used to map genomic regions. The probe is a small single-stranded DNA or RNA fragment (approximately 20 to 500 bp), used to detect its complementary nucleic acid sequence.

[00...

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Abstract

A method and a device for detecting microdeletion in a chromosome sequence tagged site (STS) area. The method comprises: selecting an STS area on chromosome, and designing according to a DNA sequence in the STS area to obtain a corresponding capture probe; hybridizing the capture probe and a multi-sample DNA hybrid library, so as to capture the DNA sequence in the STS area in the multi-sample; sequencing the captured DNA sequence in the STS area in the multi-sample of the corresponding capture probe, and obtaining sequencing data; analyzing the sequencing data through a mathematical statistics method, and obtaining a result regarding microdeletion in the chromosome STS area of each sample according to the analysis conclusion.

Description

technical field [0001] The invention relates to the technical field of genetic engineering, in particular to a method and device for detecting microdeletions in the STS region based on chromosome sequence tag sites. Background technique [0002] Deletion is a phenomenon in which chromosomes or DNA molecules in the chromosome group are partially lost, and it is an important cause of gene mutation. [0003] At present, PCR (Polymerase Chain Reaction) technology is mainly used to detect microdeletions in STS regions of chromosomes. PCR technology is a technology that selectively amplifies a specific region of DNA in vitro by simulating DNA replication in vivo. When detecting a small number of loci, PCR detection is fast and convenient; in addition, primer design requires prior knowledge of the sequences at both ends of a particular region of DNA, so microdeletions in these chromosome STS regions are required to have been reported in advance. [0004] However, in the face of a...

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6827
Inventor 刘晓张俊杰徐怀前苏政张瑞芳王俊汪建杨焕明
Owner BGI GENOMICS CO LTD
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