Personalized medication gene detection kit and application

Abstract

The invention discloses a personalized medication gene detection kit and application. The personalized medication gene detection kit is suitable for multiple kinds of sample types including dried blood spots, whole blood and buccal swabs, information of all medicine gene polymorphic sites can be acquired at once, the sequencing effective rate is 50% or above, the sequencing cover degree is 100%, the average sequencing depth exceeds 3000 X, the library building success rate is larger than or equal to 98.5%, and the medicine gene polymorphic site detection accuracy is larger than or equal to 99.9%; a primer group is high in specificity and little in nonspecific amplification, interference among primers can be well overcome, under the situation of up to 186 primer sequences, one-tube multiplePCR reaction is achieved, moreover, amplicon is high in uniformity, and under the situation of large amplification area GC content difference, overall effective amplification can be conducted. The detection kit, the primer group and a library building method can be applied to personalized medication gene detection, and guidance is provided for personalized medication.

Description

technical field [0001] The invention belongs to the field of gene sequencing, and in particular relates to a gene detection kit for individualized medicine and its application. Background technique [0002] According to the data of the United Nations World Health Organization (WHO), one-third of the global death patients died from irrational drug use, not from natural diseases themselves. This is related to irreversible damage to organs caused by adverse reactions caused by improper use of drugs. Cause death, especially the incidence of adverse drug reactions in children's medication is about 13%, and the incidence of newborns is as high as 24.4%. In addition, the effectiveness of clinical medication is also insufficient, especially in the treatment of chronic diseases such as hypertension, hyperlipidemia, and diabetes. For the same drug, there will be differences among ineffective groups, safe and effective groups, and toxic response groups. Fast-metabolizing subjects may ...

AI Technical Summary

Problems solved by technology

[0004] The use of multiplex PCR capture and next-generation sequencing technology for gene detection has obvious advantages such as simple operation, low cost, and a large number of enriched capture regions in a short time, which can greatly shorten the detection process and detection time; however, due to drug metabolism, efficacy and toxicity related There are as many as hundreds of polymorphic sites in the gene, and the use of multiplex PCR capture technology often leads to poor amplification uniformity, large differences in GC content in the amplified region, and the large interaction between multiplex PCR primers, which makes it difficult to achieve one-tube operation. As a result, it is difficult to guarantee the accuracy of detection and requires high sequencing costs; in addition, due to the large number of single nucleotide polymorphism sites (SNPs) in the genome, it is within the limit of the read length of next-generation sequencing , among the hundreds of detection sites, it is inevitable that there will be several non-target SNPs around several sites, and the primers for such sites require extremely high amplification efficiency and specificity, otherwise it is difficult to obtain in the multiplex PCR system Excellent amplification depth

Based on the above-mentioned technical problems, there is no report on the gene detection kit for individualized medicine based on multiplex PCR capture technology and its related applications.

Images