Phenylketonuria monogenic disease mutation detection primer set, kit and method

Abstract

The invention provides a phenylketonuria monogenic disease mutation detection primer set, kit and method. Different primer design software are adopted in combination with an agilent earray design system for probe design, and by continuously optimizing primer sequences, multiplex PCR (polymerase chain reaction) amplification of 20 phenylketonuria monogenic disease mutation sites is finally compressed into one well to be carried out. According to the technical scheme, the experimental design is flexible, the results are accurate, the detection speed is high, PCR fluorescent labeling is not needed, and the cost is greatly reduced. The primer set, the method and kit are suitable for batch screening.

Description

technical field [0001] The invention relates to the technical field of biological gene detection, in particular to a primer set, a kit and a method for detecting mutations in phenylketonuria monogenic disease. Background technique [0002] Phenylketonuria (PKU) is a common autosomal recessive metabolic disease that seriously endangers human health. The disease is mainly caused by the mutation of the phenylalanine hydroxylase (PAH) gene, which reduces or lacks the activity of PAH, resulting in the abnormal metabolism of phenylalanine. The accumulation of road metabolites will eventually lead to irreversible damage to the central nervous system, resulting in abnormal mental behavior, epilepsy and mental retardation. [0003] PKU is a genetic disease that can be treated by diet control. Early detection and early treatment are the key to its treatment, but the high cost of treatment has brought a heavy economic burden to the family and society, and it cannot fundamentally reduc...

AI Technical Summary

Problems solved by technology

[0004] Relying on the development of science and technology, the current diagnosis of single-gene diseases is mainly based on next-generation sequencing, but the operation steps are complicated, the detection time is long, and the requirements for technicians' operation and analysis capabilities are high, which will easily affect the reliability of the detection results. At the same time, the next-generation sequencing detection reagents and analysis consumables are expensive, and the higher cost brings many challenges to its application in the next-generation sequencing disease molecular diagnosis and population screening, affecting the popularization of applications

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