Probe method detecting human TERT gene promoter mutation and reagent kit thereof

Abstract

The invention discloses a probe method detecting human TERT gene promoter mutation and a reagent kit thereof. The method includes the following steps that firstly, human genome DNA is added in a TERT C228T PCR reaction mixed solution so that a C228T reaction system can be formed and fluorescence quantitative PCR amplification can be performed, and / or human genome DNA is added in a TERT C250T PCR reaction mixed solution so that a C250T reaction system can be formed and fluorescence quantitative PCR amplification can be performed; secondly, a result is judged, wherein analysis is performed according to the mutation Ct value of PCR amplification. The reagent kit comprises the TERT C228T PCR reaction mixed solution and / or the TERT C250T PCR reaction mixed solution. The probe method and the reagent kit provide a high-speed, high-sensitivity and high-specificity TERT gene promoter mutation detection system clinically.

Description

technical field [0001] The invention relates to a method for detecting gene mutation and its kit, in particular to a real-time fluorescent quantitative PCR Taqman probe method for detecting human TERT gene promoter mutation and its kit. Background technique [0002] Telomerase is a ribonucleoprotein complex composed of RNA and protein, belonging to reverse transcriptase, which is closely related to the regulation mechanism of telomeres and plays a key role in maintaining cell immortalization and carcinogenesis. Telomerase reverse transcriptase (telomerase reverse transcriptase, TERT) is an important catalytic part of telomerase. The TERT gene is located on human chromosome 5, and the two promoter mutation sites of the gene are 1,295,228C>T and 1,295,250C>T (referred to as C228T and C250T, respectively) are particularly common, and these two mutations have been shown to enhance transcriptional activity of the TERT promoter. Mutations in the TERT promoter region do not ...

AI Technical Summary

Problems solved by technology

Existing TERT gene detection can only analyze the expression of TERT gene by in situ hybridization, which must be based on cell morphology and does not include the amplification of a specific region of TERT gene, so only when the total expression of TERT gene Only when it increases or decreases significantly can it be observed with the naked eye

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