PML-RARA fusion gene mutation detection method

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...

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.)

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