Composition for detecting polymorphism and copy number of CYP2D6 gene, kit and method

Abstract

The invention relates to the field of molecular biological detection, and more particularly to the field of detection of CYP2D6 gene polymorphism and copy number. The invention provides application ofan oligonucleotide combination in preparing a kit for detecting CYP2D6 gene polymorphism and copy number. Therefore, one or more of gene copy number variations of CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*10 and CYP2D6 can be specifically detected. Meanwhile, the invention also provides an oligonucleotide pair composition, a kit containing the oligonucleotide pair composition, and a method for detecting the CYP2D6 gene polymorphism and copy number.

Description

technical field [0001] The invention belongs to the field of molecular biology detection, in particular to the field of detection of CYP2D6 gene polymorphism and copy number. Background technique [0002] CYP2D6 is the first P450 enzyme confirmed to be controlled by a single gene. CYP2D6 is located on chromosome 22. It contains 9 exons and 8 introns, with a total length of about 5400 bp. It is a complete functional gene. Studies have found that there are two highly homologous pseudogenes upstream of the CYP2D6 gene, which are called the CYP2D7P gene and the CYP2D8P gene. A thymine (T) was inserted at the 226th position of exon 1, which changed the reading frame and caused early termination of transcription; the CYP2D8P gene is a mutant pseudogene containing multiple breakpoints. Neither CYP2D7P nor CYP2D8P genes are expressed in the human footprint, and only CYP2D6 is expressed in the liver, intestine, kidney, and human brain. [0003] Modern studies have found that the co...

AI Technical Summary

Problems solved by technology

Direct sequencing and PCR-single-strand conformation polymorphism analysis cannot detect copy number variation. The current PCR method only detects one of polymorphism or copy number variation, and the sensitivity is low due to the high homology of pseudogenes

However, the liquid-phase or solid-phase chip method can detect polymorphism and copy number variation at the same time, but it needs to purchase matching liquid or solid-state chip consumables and special chip reading instruments, and needs to synthesize probe chips, which is costly and needs to be combined with other Genes are designed together, the number of probe chips should not be too small, and they cannot be used to detect CYP2D6 alone, the sensitivity is not high, and the reproducibility of the detection results is poor

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