STAG2 gene mutant sequence and detection method thereof as well as use of STAG2 gene mutation in detecting bladder cancer

Abstract

The invention provides an STAG2 gene mutant sequence and a detection method thereof as well as use of STAG2 gene mutation in detecting bladder cancer and belongs to the technical field of the molecular biology gene detection. The detection method comprises the following steps: (1) extracting a tumor tissue DNA and a peripheral blood DNA from a tumor tissue and the peripheral blood of a bladder cancer patient; (2) performing whole genome sequencing and whole exon sequencing on the two DNAs extracted in the step (1), respectively; (3) performing whole exome sequence alignment and somatic mutation detection on the sequencing results of the step (2), thereby obtaining a mutant gene; (4) verifying the somatic replacement, insertion and deletion of the mutant gene obtained in the step (3) by use of Sanger sequencing; and (5) identifying the mutant gene as the remarkable mutant gene. The detection method has the advantage that the mutation of the STAG2 is one of unfavorable indexes of the bladder cancer and also is capable of serving as a new acting target for treating the bladder cancer.

Description

technical field [0001] The invention belongs to the technical field of molecular biology gene detection, and specifically relates to a STAG2 gene mutation sequence, a detection method thereof and an application of the STAG2 gene mutation in detecting bladder cancer. Background technique [0002] Bladder cancer is the most common malignancy of the genitourinary system in various countries and regions around the world. An estimated 386,300 new cases and 150,200 deaths occurred in 2008 alone. Past studies have shown that bladder cancer is a highly heterogeneous disease with two different subtypes (superficial and invasive) with variable clinical manifestations and complex genetic background. Recently, we performed a study showing that eight chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A, and CHD6) were recurrently mutated in bladder transitional cell carcinoma. However, at present, we still lack a systematic understanding of the somatic mutations in bl...

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However, we still lack a systematic understanding of somatic mutations in bladder

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