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Kit for detecting PAH (phenylalanine hydroxylase) gene of phenylketonuria

A technology for phenylketonuria and genetic detection, applied in the field of genetics, can solve the problems of high cost, time-consuming and labor-intensive operation, unsuitable for routine clinical detection of PAH gene mutation, etc., and achieve the goal of improving detection specificity, reducing cost, and shortening detection time Effect

Active Publication Date: 2014-09-10
潮州凯普生物化学有限公司 +1
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

DGGE, SSCP, and DHPLC operations are time-consuming and labor-intensive
Although DNA sequencing is the gold standard for detecting gene mutations, it is not suitable for routine clinical detection of PAH gene mutations due to high cost

Method used

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  • Kit for detecting PAH (phenylalanine hydroxylase) gene of phenylketonuria
  • Kit for detecting PAH (phenylalanine hydroxylase) gene of phenylketonuria
  • Kit for detecting PAH (phenylalanine hydroxylase) gene of phenylketonuria

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Embodiment Construction

[0093] The present invention will be described in detail below through examples.

[0094] In the examples, 20% EDAC solution, 0.1% SDS, 0.25% skimmed milk powder, 0.05% thimerosal, and 0.05% sodium azide all refer to the mass ratio, and 0.1% Tween 20 refers to the volume ratio.

[0095] Step 1 is used to detect the preparation of PAH gene chip

[0096] Step 1-1 Probe Design

[0097] A total of 26 DNA probes (SEQ ID Nos. : 1-26), the length of the probe is generally about 14-25 bases, and the 5' or 3' end of the probe is aminated.

[0098] Step 1-2 Spotting and immobilization of DNA probes

[0099] 1) Spotting and arrangement of probes

[0100] In the immobilization of direct oligonucleotide DNA probes, the DNA probes were first diluted with probe diluent (0.5M Na at pH 8.4 2 CO 3 and 0.5M NaHCO 3 solution) mixed for spotting. After the synthesis of the DNA probe is completed, the DNA spotting device is started, and the DNA probe is printed under the control of the chip...

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Abstract

The invention discloses a kit for detecting a PAH (phenylalanine hydroxylase) gene of phenylketonuria. The kit comprises (1) a gene chip with 13 mutation sites of the PAH gene and a normal control complementary nucleotide sequence probe thereof and (2) various primers for amplifying DNA sequences in clinical samples, wherein the probe is SEQ ID Nos: 1-26 or the sequence complementary to SEQ ID Nos: 1-26; the DNA sequences of the primers are SEQ ID Nos: 27-40. By virtue of the kit for detecting the PAH gene, which is disclosed by the invention, a joint detection platform for detecting 13 common mutation sites of the PAH gene is provided, a synchronous joint detection is achieved, the specificity of the detection is improved, the cost is reduced and the detection time is shortened; the kit is of great significance for screening phenylketonuria-infected patients and carrying out genetic counseling and prenatal diagnosis.

Description

technical field [0001] The invention relates to the field of genes, in particular to a detection kit for diagnosing the PAH gene of phenylketonuria (PKU). Background technique [0002] Phenylketonuria is a common autosomal recessive genetic disease caused by enzyme defects in the phenylalanine (Phe) metabolic pathway. 98-99% of PKU is caused by the decrease or significant deficiency of phenylalanine hydroxylase (phenylalanine hydroxylase, PAH) activity. The decrease in PAH activity prevents Phe from being converted into tyrosine (tyrosine, Tyr), resulting in blood tissue The accumulation of Phe and its bypass metabolites and the synthesis of Tyr decreased. The incidence of PKU has racial and regional differences. In my country, it is 1 / 10000 to 1 / 16000. It is estimated that the carrier rate of PAH gene mutation (ie heterozygote) in the population is about 1 / 53. [0003] The PAH gene is located on chromosome 12q24.1 and consists of about 1.5Mb bases. The PAH gene is a frag...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6827C12Q1/6837C12Q2531/113C12Q2565/501C12Q2563/131
Inventor 李云朱娟娟谢龙旭
Owner 潮州凯普生物化学有限公司
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