Drug gene mutation detection kit and detection method based on SNV array technology

Abstract

The invention provides a drug gene mutation detection kit based on an SNV array technology and a detection method. The kit comprises all common variants of drug-related genes ABCB1, CYP2C19, HTR2C, CYP3A5, SLCO2B1, EPHX1, PLA2G4A, UGT1A, CYP2D6, ACE, DRD2, CRHR1, FKBP5, VKORC1, CYP1A1, HLA_B, UGT1A4, MC4R, TPMT and MT-RNR1. The kit can hybridize and capture common related variation types of the genes simultaneously and specifically, and realize efficient, accurate and comprehensive drug gene mutation detection. Meanwhile, detection of drug gene mutation sites is achieved on the basis of the SNV array technology, high convenience, sensitivity and specificity of the SNP array technology are continued, the standardization degree of clinical drug gene mutation detection can be remarkably improved, and a new technical thought and a personalized medication guidance basis are provided for clinical precise medication.

Description

technical field [0001] The invention belongs to the field of gene detection, and in particular relates to a drug gene mutation detection kit and detection method based on SNV array technology. Background technique [0002] Studies have shown that the effectiveness of drugs varies greatly among different individuals, especially in the treatment of diseases such as hypertension, diabetes and nervous system, the effective rate of drugs is less than 50%, which is caused by individual differences in drugs. Moreover, many drugs have adverse drug reactions (Adverse Drug Reaction, ADR). According to the National Adverse Drug Reaction Monitoring Report issued by the State Food and Drug Administration (NMPA), the number of people hospitalized due to ADR in my country exceeds 2.5 million and the death toll exceeds 200,000 each year. . There are many factors that cause individual differences in drugs. In addition to age, combined drugs or diseases, genetic factors have also been proved ...

AI Technical Summary

Problems solved by technology

Among them, FISH, Sanger, and PCR methods are low-to-medium throughput techniques, which can only detect one or several mutation sites in a small number of samples at a time, which is time-consuming and labor-intensive, and the sensitivity and specificity of detection are not high, which is not conducive to Efficiently predict drug efficacy and guide drugs

[0005] CN108728522A and CN108707658A use next-generation sequencing to perform high-throughput drug gene detection, detect multiple genes and multiple samples at one time, and shorten the detection process and detection time. However, the capture technology based on primer design often has poor amplification uniformity , the large difference in GC content in the amplified region and the highly homologous region lead to low primer specificity, and the large interaction between primers makes it difficult to achieve one-tube operation, which makes it difficult to guarantee the detection accuracy

In addition, the current cost of sequencing is still high, and there are still challenges in the interpretation of sequencing results, and it is impossible to effectively combine pharmacogenomics to achieve clinical guidance for patients' medication

[0006] The gene chip method made by the traditional spotting method has the advantages of high throughput, but it is prone to false positives, false negatives and other disadvantages

Although the SNP array technology in the gene chip is widely used in clinical practice, it has high accuracy, easy operation and low cost, but it can only detect copy number variation.

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