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Capturing and sequencing method for multiple genes related to capillary malformation

A capillary and multi-gene technology, applied in the fields of molecular biology and medicine, can solve problems such as clinical diagnosis and drug selection difficulties

Inactive Publication Date: 2019-05-21
宁波爱她基因科技有限公司
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  • Abstract
  • Description
  • Claims
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Problems solved by technology

Among them, there are as many as a dozen genes related to arteriovenous malformations, and there are difficulties in clinical diagnosis and drug selection

Method used

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  • Capturing and sequencing method for multiple genes related to capillary malformation
  • Capturing and sequencing method for multiple genes related to capillary malformation
  • Capturing and sequencing method for multiple genes related to capillary malformation

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Embodiment Construction

[0102] The following is a further description of the present invention. It should be noted that the present embodiment provides detailed implementation and specific operation process on the premise of the technical solution, but the protection scope of the present invention is not limited to the present embodiment .

[0103] A method for enriching 14 gene target regions based on multiple probes, comprising the following steps.

[0104] 1 Genomic DNA extraction and fragmentation.

[0105] 1.1 Genomic DNA extraction. For tissue extraction from the subject, the tissue of the subject should be taken from the dermis below the epidermis, preferably including capillaries.

[0106] 1.2 Genomic DNA fragmentation. Use the Covaris instrument and operate according to the recommended operating procedures, the target fragment size is 200-300bp.

[0107] 2 Fill in the ends of the fragmented DNA.

[0108] 2.1 The reaction system is as follows.

[0109]

[0110] 2.2 The reaction proce...

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Abstract

The invention discloses a capturing and sequencing method for multiple genes related to capillary malformation. The method at least includes the steps of genomic DNA extraction and fragmentation, fragmental DNA end filling, linker connection, pre-capturing PCR, hybrid capturing, and post-capturing PCR. The selected genes related to human capillary malformation include ACVRL1, AKT1, ENG, EPHB4, GNA11, GNAQ, KRAS, MAP2K1, NRAS, PIK3CA, PTEN, RASA1, SMAD4 and TEK; by combining the gene capturing technology with the high-throughput sequencing technology, all variant types of target genes can be detected, including mutation, deletion, insertion and fusion.

Description

technical field [0001] The invention relates to the fields of molecular biology and medicine, in particular to a capillary malformation-related polygene capture and sequencing method. Background technique [0002] Capillary malformations are neonatal susceptibility diseases, including multiple subtypes, and the attack rate of port wine stains (port wine stains) alone is as high as three thousandths, and these diseases are closely related to gene mutations. In the "Guidelines for the Diagnosis and Treatment of Hemangiomas and Vascular Malformations (2016 Edition)", the relationship between multiple types and gene mutations is clearly stated. Among them, there are as many as a dozen genes related to arteriovenous malformations, and there are difficulties in clinical diagnosis and drug selection. [0003] In order to solve the above problems, our high-throughput sequencing method of gene capture will solve such problems well. [0004] Enrichment of target sequences can be ach...

Claims

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Application Information

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IPC IPC(8): C12Q1/6806C12Q1/6869C12Q1/6883
Inventor 刘贇蔡韧
Owner 宁波爱她基因科技有限公司
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