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A sequencing method for detecting DNA mutation

A technology of linker sequence and nucleotide sequence, applied in the field of sequencing DNA mutation detection, can solve problems such as difficult detection

Pending Publication Date: 2019-10-29
张立峰
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

In conclusion, the large DNA deletions observed in thalassemia represent a common class of genetic mutations in humans but are difficult to detect using conventional sequencing methods

Method used

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  • A sequencing method for detecting DNA mutation
  • A sequencing method for detecting DNA mutation
  • A sequencing method for detecting DNA mutation

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Embodiment Construction

[0026] Now, application examples of the present invention will be described with reference to the drawings. The terms used here are only used for the purpose of describing application examples, and are not meant to limit the scope of application of the present invention. In addition, unless otherwise defined, all technical and scientific terms used herein have the same meaning as commonly understood by those of ordinary skill in the art to which the present invention belongs. Where possible, for clarity and consistency, the same reference numerals are used throughout the drawings.

[0027] Throughout this document, unless otherwise stated to the contrary, the terms "including", "consisting of", etc. shall be interpreted as non-exhaustive, or in other words, meaning "including but not limited to" .

[0028] Throughout the specification, unless the context requires otherwise, the word "comprising" or its variants will be understood as including the whole or whole group and not excl...

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Abstract

A method for detecting a gene deletion in a host species comprises: (a) amplifying a first DNA region surrounding the gene deletion with at least a pair of pre-PCR primers to form a pre-PCR product, wherein one of the pair of prePCR primers carries an adaptor sequence at 5'-end, wherein the adaptor sequence is not found in the host species' genome; (b) hybridizing the pre-PCR product to at least one circularizing probe, wherein the circularizing probe is designed to have a ligation arm and an extension arm targeting a strand complementary to the adapter sequence.

Description

[0001] Citation of related applications [0002] This application claims the rights and priority of Singapore Patent Application No. 10201702238W filed on March 20, 2017, the content of which is incorporated herein by reference. Technical field [0003] The present invention relates to a sequencing method for detecting DNA mutations and a kit used for the same purpose, especially for detecting large fragment DNA deletions with unknown or variable boundaries. Background technique [0004] The following discussion of the background of the invention is intended to promote an understanding of the invention. However, it should be understood that this discussion is not an admission that any materials and information mentioned have been published in any jurisdiction before the priority date of this application, known or part of common general knowledge. [0005] Although deep sequencing technology has made it possible to sequence personal genomes, this technology has not been applied to lar...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6853C12Q1/686C12Q1/6869
CPCC12Q1/6853C12Q1/6858C12Q1/6869C12Q2525/161C12Q2525/191C12Q2525/307C12Q2531/113C12Q2535/122C12Q2521/501
Inventor 张立峰洪儒乌迪塔·千多拉
Owner 张立峰