Kit for detecting variation of copy number of CYP2D6 gene

Abstract

The invention relates to a kit for detecting variation of the copy number of a CYP2D6 gene. The kit comprises a second intron, a sixth exon, a fifth intron and a reference gene RPP30 which are used for detecting the CYP2D6 gene, a real-time fluorescent quantitation technology is adopted, and the change of the copy number of the CYP2D6 gene is determined quickly and accurately; . By using the kit,high-throughput detection can be simultaneously conducted on three loci of the gene related to CYP2D6 under the same reaction condition, detection specificity is high, sensitivity is high, the minimumlowest detection limit is 1 ng / [mu]L, the consumed time is short, and the process from specimen inspection to result obtaining can be completed within two hours.

Description

technical field [0001] The present invention relates to the field of CYP2D6 gene polymorphism detection, more particularly, relates to a kit for detecting CYP2D6 gene copy number variation. Background technique [0002] CYP2D6 is one of the important members of the CYP enzyme family, accounting for 2-9% of the total liver enzymes, but involved in the metabolism of 20-30% of drugs, including β-blockers, antidepressants, antiarrhythmic drugs, anti Psychiatric drugs (such as aripiprazole with the largest sales), analgesics, etc. CYP2D6 is the first P450 enzyme confirmed to be controlled by a single gene. CYP2D6 is located on chromosome 22, contains 9 exons and 8 introns, and has a total length of about 5400bp. It is a complete functional gene. Studies have found that there are polymorphisms and gene copy number duplications in the CYP2D6 gene. So far, more than 100 CYP2D6 allelic variations have been found, mainly including single nucleotide variations, loss of large fragmen...

AI Technical Summary

Problems solved by technology

These methods are either time-consuming, complicated to operate, or have high requirements for operators and experimental sites, or have high detection costs, or are difficult to detect different mutation sites of multiple genes at the same time

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