TERT gene combination mutation site detection kit

A technology for detecting kits and mutation sites, which is applied in the determination/inspection of microorganisms, recombinant DNA technology, DNA/RNA fragments, etc., which can solve the problems of workload/instrument/time waste, and reduce consumption and workload Effect
CN104404128AActive Publication Date: 2015-03-11GUANGZHOU KINGMED DIAGNOSTICS CENT
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Patent Information

Authority / Receiving Office
CN · China
Current Assignee / Owner
GUANGZHOU KINGMED DIAGNOSTICS CENT
Publication Date
2015-03-11

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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.
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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...

Claims

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