TERT gene combination mutation site detection kit

Abstract

The invention belongs to the field of molecular diagnosis and provides a TERT gene combination mutation site detection kit. The kit provided by the invention comprises a primer pair capable of respectively amplifying fragments containing TERT gene polymorphic sites RS34094720, RS61748181, RS121918661, RS121918662, RS121918663 and RS121918664 and a sequencing primer for sequencing amplification products. The invention also provides a method for non-diagnostic detection of TERT gene combination mutation sites by the use of the kit.

Description

field of invention [0001] The invention relates to the field of molecular diagnosis, in particular, the invention relates to a kit for detecting the combined mutation site of TERT gene. Background technique [0002] Human telomerase is a ribonucleoprotein complex composed of human telomerase reverse transcriptase (hTERT), human telomerase RNA component (hTR) and human telomerase-related proteins (hTEP1, etc.). Telomerase uses hTERC as a template to synthesize telomere DNA by reverse transcription under the catalysis of hTERT. In recent years, a number of studies have found that mutations in genes encoding telomerase complexes lead to telomerase dysfunction, telomere shortening, cell aging, increased genome instability, and bone marrow failure syndrome, such as Neal S.Young The 16 exons of the TERT gene were screened in 124 patients with acquired aplastic bone marrow failure syndrome, and 5 TERT mutations were found in 7 patients (Blood2003; 102:916-918), while Juan Liang wa...

AI Technical Summary

Problems solved by technology

However, when detecting multiple polymorphic sites at the same time, the PCR reaction conditions used for the primers of each site are different, and the reaction conditions must be set separately for each site of each sample, resulting in a large workload / instrument / time waste

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