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Chinese population phenylketonuria PAH (phenylalanine hydroxylase) gene screening kit

A phenylketonuria and kit technology, which is applied in the field of gene mutation detection and biomedicine, can solve the problems of failing to include main mutant genes, low resolution, and low throughput.

Inactive Publication Date: 2013-12-11
SUZHOU MUNICIPAL HOSPITAL
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AI Technical Summary

Problems solved by technology

Using the results of polyacrylamide gel electrophoresis to determine the genotype, the resolution is low, which is easy to cause misjudgment, and the invention can only detect 7 mutation hotspots at a time, which fails to cover the main mutation genes of Chinese phenylketonuria. lower

Method used

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  • Chinese population phenylketonuria PAH (phenylalanine hydroxylase) gene screening kit
  • Chinese population phenylketonuria PAH (phenylalanine hydroxylase) gene screening kit
  • Chinese population phenylketonuria PAH (phenylalanine hydroxylase) gene screening kit

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Embodiment 1

[0060] Example 1, Chinese population phenylketonuria PAH gene mutation hotspot screening detection

[0061] Sample selection: The samples came from the DNA library of PKU patient families in the Reproductive and Genetic Center of Suzhou Municipal Hospital, a total of 27 families. All patients in the library signed informed consent before collecting samples, and promised to cooperate with follow-up diagnosis, treatment and follow-up.

[0062] In step 1, multiplex PCR amplification reactions were performed on 8 segments of hotspots of PAH gene mutation in phenylketonuria in the Chinese population.

[0063] PCR reaction system 10μL, containing sample DNA 10ng, dNTP 2mM, 10×Buffer (containing Mg 2+ ) 1.0 μL, MgCl 2 25mM, FastTaq enzyme 0.15U, the final concentration of each amplification primer pair is as shown in Table 4. The PCR reaction conditions are: pre-denaturation at 95°C for 4 minutes; denaturation at 94°C for 30s, annealing at 66°C for 50s, 0.5°C per cycle, extension at ...

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Abstract

The invention discloses a kit for synchronously detecting 12 mutation hotspots of the Chinese population phenylketonuria PAH (phenylalanine hydroxylase) gene. In the kit, 12 loca on the Chinese population PAH gene are used as detection objects; an amplification primer and an extension primer are respectively designed for the mutation type of each locus; each destination section is subjected to PCR amplification and mark extension at the same time; and the gene types of the 12 mutation hotspots are obtained at the same time through capillary electrophoresis analysis. The invention provides a phenylketonuria PAH gene mutation screening kit which is simple, has the advantages of high flux, high performance, low cost and high detection accuracy, is suitable for the Chinese people and suitable for the group screening of the Chinese population phenylketonuria.

Description

technical field [0001] The invention relates to the field of gene mutation detection in the field of biomedicine, in particular to a kit for screening 12 mutation hotspots of the PAH gene in Chinese populations of phenylketonuria. Background technique [0002] Phenylketonuria (PKU for short) is a common congenital disorder of amino acid metabolism. It was discovered by Dr. Folling in Norway in 1934. It is named after a large amount of phenylpyruvate in the urine of patients. The child is normal at birth, and if there is no intervention, symptoms will appear at 3-6 months after milk intake, and the symptoms will be obvious at the age of one year. The main symptoms are: restlessness, hyperactivity or drowsiness, lethargy, convulsions in about 25% of the children, and then the retardation of intellectual development becomes more and more obvious; due to insufficient melanin synthesis, the hair, skin and iris become lighter in the months after birth , About 1 / 3 of the children ...

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Application Information

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IPC IPC(8): C12Q1/68
Inventor 陈瑛王本敬毛君李海波李红
Owner SUZHOU MUNICIPAL HOSPITAL
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