Phenylketonuria Detection Kit

A technology of phenylketonuria and detection kit, which is applied in the field of molecular biology, can solve the problems of inability to diagnose patients at an early stage, clearly identify heterozygotes and normal individuals, etc., and achieves many mutation detection sites, and improves coverage and coverage. high rate effect

Active Publication Date: 2021-03-19
国家卫生健康委科学技术研究所
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0006] At present, the routine clinical diagnosis methods for phenylketonuria mainly include blood phenylalanine measurement, urine pterin spectrum analysis, red blood cell dihydrobiopterin reductase activity measurement, and cranial nuclear magnetic resonance examination. These traditional methods not only Patients cannot be diagnosed early, and it is difficult to clearly distinguish heterozygotes from normal individuals

Method used

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Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0050] Example 1 Establishment of the PAH gene mutation spectrum of PKU patients in Northwest China

[0051] A total of 475 core families of phenylketonuria patients diagnosed in the Newborn Screening Center and Medical Genetics Center of Gansu Provincial Maternal and Child Health Hospital from January 2007 to January 2017 were collected. The patients came from Northwest China, including Gansu and Shaanxi. , Ningxia, Qinghai, Northwest Xinjiang. According to the classification criteria, 475 patients were divided into three types according to the blood phenylalanine concentration before treatment: 253 cases of classical PKU (Classical PKU, Phe≥1200 μmol / L); 253 cases of intermediate PKU (Mild PKU, Phe: 360~1200μmol / L) in 150 cases; mild hyperphenylalaninemia (MHP, Phe: 120~360μmol / L) in 72 cases. All children passed the Phe load test and urine pterin analysis combined with clinical symptoms to rule out tetrahydrobiopterin deficiency. With the informed consent of the family me...

Embodiment 2

[0112] Example 2 Establishment of MassArray of PAH gene mutation spectrum of PKU patients in Northwest China

[0113] 1. Basic principles of MassArray

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Abstract

The invention provides a phenylketonuria detection kit. The kit comprises reagents for detecting at least the following mutation sites of a PAH gene: c.728G>A, c.611A>G(5.58%), c.1068C>A, c.1238G>C, c.4421G>A, c.1197A>T, c.721C>T, c.331C>T, c.842+2T>A, c.194T>C. the invention further relates to a phenylketonuria detection kit by means of a flight time mass-spectrometric technique (MALDI-TOF-MS).The kit is multiple in mutation sites, high in flux, simple in operation , short in cycle, high in accuracy, high in stability and low in cost.

Description

technical field [0001] The invention relates to the field of molecular biology, in particular to a detection kit for phenylketonuria, which is suitable for application in Northwest China. Background technique [0002] Phenylketonuria (PKU) is the most common autosomal recessive genetic metabolic disease. The mutation of phenylalanine hydroxylase (PAH) gene leads to the reduction or loss of PAH activity, and phenylalanine ( phenylalanine, Phe) caused by metabolic disturbance in the liver. Untreated PKU patients with elevated blood and tissue Phe concentrations develop developmental delays, mental retardation, speech impairment, microcephaly, autism, skin eczema, and epileptic convulsions due to excess Phe and neurotoxic effects of bypass metabolites Different degrees of irreversible intellectual damage. Phenylalaninemia (PKU) is a congenital disorder of amino acid metabolism, characterized by a lack of phenylalanine hydroxylase activity, resulting in elevated plasma phenyla...

Claims

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Application Information

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Patent Type & AuthorityPatents(China)
IPC IPC(8): C12Q1/6883C12Q1/6872
CPCC12Q1/6872C12Q1/6883C12Q2600/156C12Q2600/16C12Q2531/113C12Q2537/143C12Q2565/501
Inventor金孝华闫有圣高华方马旭
Owner国家卫生健康委科学技术研究所