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PML-RARA fusion gene mutation detection method

A detection method and genetic technology, applied in biochemical equipment and methods, microbiological determination/inspection, DNA/RNA fragments, etc., can solve the problems of missed detection of rare mutations, and achieve improved clinical detection efficiency, high sensitivity, strong universal effect

Active Publication Date: 2022-05-31
GENESEEQ TECH INC +1
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0010] The technical problem to be solved by the present invention is the problem of missed detection of rare mutations in the existing PML / RARA fusion gene detection means, especially for some rare fusions (including intron regions, or rare RARA fusion forms, Such as ZBTB16-RARA, NPM1-RARA, TFG-RARA, etc.)

Method used

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  • PML-RARA fusion gene mutation detection method
  • PML-RARA fusion gene mutation detection method
  • PML-RARA fusion gene mutation detection method

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Embodiment Construction

[0035] The present invention will be further described in detail through specific embodiments below. However, those skilled in the art will understand that the following examples are only used to illustrate the present invention, and should not be considered as limiting the scope of the present invention. If no specific technique or condition is indicated in the examples, it shall be carried out according to the technique or condition described in the literature in this field or according to the product specification. The reagents or instruments used were not indicated by the manufacturer, and they were all commercially available conventional products.

[0036] Based on the second-generation sequencing technology, this patented method specifically designs probes for the PML-RARA fusion gene, and optimizes the probes used in the research design during the liquid phase capture process on the basis of traditional probes. In addition to the comprehensive coverage of the exon region...

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Abstract

According to the PML-RARA fusion gene mutation detection method provided by the invention, the change condition of the PML and RARA fusion gene can be accurately detected through a next generation sequencing (NGS) technology, and the method provided by the invention can be used for synchronously detecting various gene variation types such as gene mutation, deletion, increase, transversion and the like; the kit can be used for comprehensively guiding the diagnosis of clinical acute promyelocytic leukemia (APL), and guiding the subsequent treatment and drug resistance selection of an arsenical agent or all-transretinoic acid (ATRA), and can be used for comprehensively guiding the clinical diagnosis of the APL and guiding the subsequent treatment and drug resistance selection of the arsenical agent or all-transretinoic acid (ATRA).

Description

technical field [0001] The invention belongs to the technical field of gene detection, and in particular relates to a detection method for PML-RARA fusion gene mutation. Background technique [0002] Acute promyelocytic leukemia (APL) is a special subtype of acute myeloid leukemia (AML), accounting for 6-9% of acute leukemias. According to statistics, the incidence of APL in China is about 10% higher than that in Western countries, accounting for 18.7% of AML, and the incidence in some areas such as the Northeast Oilfield is as high as 20% to 30%. About 98% of APL is accompanied by the classic t(15;17)(q22;q21) chromosomal translocation, which causes the reciprocal rearrangement of the PML gene on 15q22 and the retinoic acid receptor α gene on 17q21, resulting in PML / RARA fusion gene, whose protein product leads to cell differentiation arrest and insufficient apoptosis, is the main molecular mechanism of APL. The PML-RARA fusion gene has three subtypes according to the po...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6886C12N15/11
CPCC12Q1/6886C12Q2600/156
Inventor 邵阳朱柳青那成龙陈晨汪笑男吴雪常志力孟齐
Owner GENESEEQ TECH INC
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