High-throughput sequencing detection method for gene copy number and gene mutation based on MLPA

A gene copy number, high-throughput technology, applied in the field of gene detection and nucleic acid analysis, can solve the problems of increasing the complexity of detection and analysis

Inactive Publication Date: 2016-09-28
杨永臣
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  • High-throughput sequencing detection method for gene copy number and gene mutation based on MLPA
  • High-throughput sequencing detection method for gene copy number and gene mutation based on MLPA
  • High-throughput sequencing detection method for gene copy number and gene mutation based on MLPA

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[0078] The following specific implementation process adopts the third solution in the above "Summary of the Invention".

[0079] It should be understood that the specific implementation process adopts the idea provided by the third solution, which does not mean that the third solution is the best solution to achieve the purpose of the present invention. The implementer should reasonably arrange his own experimental plan according to the specific conditions, purpose, funds, personnel experience, etc.

[0080] It should be understood that even Scheme 3 of the present invention is not limited to the specific methods, schemes and reagents described herein. The terminology used herein is to describe particular embodiments only and is not intended to limit the scope of the invention.

[0081] Furthermore, the reactions described below can be accomplished in a variety of different ways, as would be appreciated by those skilled in the art. In the preferred embodiments described belo...

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Abstract

The invention discloses high-throughput sequencing detection technology for gene copy number variation and gene mutation based on an MLPA technical principle, and belongs to the technical field of gene detection. In an MLPA technical link, a PCR amplification link or a link before or after the PCR amplification link is reconstructed to provide a PCR product with a contact sequence capable of entering high-throughput sequencing for sequencing on a machine. Obtained data are analyzed to get a Reads number of amplification of each probe, and the copy number of a template or a gene mutation situation is calculated. According to the technology, fragments with different lengths can be distinguished without capillary electrophoresis, and the products are designed to have almost same lengths, so that the limit that MLPA can only detect more than 50 loci at one time is greatly broken and complex steps for probe preparation are avoided. The contact sequence can be embedded for distinguishing tag sequences for different samples, and therefore it is ensured that detection of the copy number is of high accuracy, and the high-throughput property of detected loci and detected samples is achieved.

Description

technical field [0001] The present invention generally relates to the field of nucleic acid analysis in biological samples, in particular to the detection of genetic variation using a method based on multiple connections and a high-throughput method, and belongs to the technical field of gene detection. Background technique [0002] 1 Overview of copy number variation[1] [0003] 1.1 Discovery of copy number variation (CNV) [0004] Copy number variations (CNVs) refer to microstructural variations of DNA fragments longer than 1 kb that occur on the genome due to duplications, deletions, and other reasons compared with the reference sequence [2]. [0005] In 1936, when Bridge was studying the compound eye traits of Drosophila, he discovered that there was a segmental duplication in the Bar gene, which affected the formation of the compound eyes of Drosophila. Later, “duplications” similar to the Bar gene were found in some difficult disease genes in humans (Buckland PR. P...

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6869C12Q2531/113C12Q2537/143C12Q2533/107
Inventor 杨永臣
Owner 杨永臣
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