New system and kit for screening and diagnosing phenylketonuria

Abstract

The invention discloses a new system for screening and diagnosing phenylketonuria.41 common phenylalanine hydroxylase gene mutation sites and 4 most common 6-pyruvoyl tetrahydrobiopterin synthetase (PTPS) gene (PTS) mutation sites are screened to form the gene mutation detection system of phenylketonuria.The system is low in cost and high in throughput.Compared with the prior art, the system has the advantages that most mutation sites can be detected in one system, and 45 mutation sites can be detected; the comprehensive cost is the lowest, and the total cost of the system is lower than built methods using the DNA chip technology, the 'molecular switch' technology, the high-resolution melting curve method and the SNaPShot technology to detect PAH gene mutation; most mutation sites can be detected, the number of the detected mutation sites is twice as the number of the detected PAH gene mutation sites of the high-resolution melting curve method built by Xiamen University, the number of the detected mutation sites is 4 times as the number of the detected mutation sites of the DNA chip technology and the SNaPShot technology, and the number of the detected mutation sites is 6 times as the number of the detected mutation sites of the 'molecular switch' technology.

Description

technical field [0001] The invention relates to the field of gene diagnosis and neonatal disease screening, in particular to a new phenylketonuria gene screening and diagnosis system and kit. Background technique [0002] Phenylketonuria (PKU) is a common disorder of amino acid metabolism, caused by a defect in the phenylalanine hydroxylase gene (PAH) in the phenylalanine metabolic pathway, resulting in the conversion of phenylalanine into tyrosine. The acid pathway is blocked, resulting in the accumulation of phenylalanine and phenylpyruvate, and affecting the synthesis of neurotransmitters in the brain. PKU is an autosomal recessive inheritance, which mainly causes abnormal development of the nervous system in newborns. The main clinical features are mental retardation, neuropsychiatric symptoms, abnormal EEG, eczema, skin scratch signs, depigmentation, and rat odor. The incidence of phenylalanine varies from country to country, with an average of about 1 / 15,000 people, w...

AI Technical Summary

Problems solved by technology

Its disadvantage in gene mutation detection is that it cannot be completed in one system when detecting multiple mutations that are far apart at the same time, and the cost will be greatly increased as the number of sites increases.

The disadvantage of this method is that there are fewer sites to detect, the success rate of genetic diagnosis of PKU is low, and the cost is also high

The dis...

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