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Phenylketonuria PAH gene detection kit

A technology for phenylketonuria and genetic testing, applied in the field of genetics, can solve the problems of being unsuitable for routine clinical testing of PAH gene mutations, time-consuming and labor-intensive operations, and high costs

Inactive Publication Date: 2020-05-19
北京杰智慧创科技发展中心
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  • Summary
  • 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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  • Phenylketonuria PAH gene detection kit
  • Phenylketonuria PAH gene detection kit
  • Phenylketonuria PAH gene detection kit

Examples

Experimental program
Comparison scheme
Effect test

Embodiment

[0039] This embodiment provides a kit for detecting the PAH gene of phenylketonuria, and the kit includes c.611A> G; c.728G> A; c.1068C> A; c.1238G> C; c.442-1G> A; c.1197A> T; c.721C> T and c.331C> T's detection system, the detection system includes wild-type and mutant allele-specific scorpion primers, and the common primers of the allele-specific scorpion primers. The specific primer sequences are shown in the following table:

[0040]

[0041]

[0042] As can be seen from the scorpion primer sequence in the above table, this example provides wild-type allele-specific scorpion primers and mutant allele-specific scorpion primers, of which wild-type allele-specific scorpion primers The selected fluorescent reporter groups are all FAM, and the fluorescent reporter groups selected for the mutant probes are all HEX. The quenching group uses the BHQ1 group, and other fluorescent reporters and quenching groups can also be used.

[0043] The kit in this embodiment also includes Anstart q...

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Abstract

The invention discloses a phenylketonuria PAH gene detection kit, and relates to the technical field of gene detection. The kit includes a reagent for detecting polymorphic sites; and the polymorphicsites at least include one of c.611A>G, c.728G>A, c.1068C>A, c.1238G>C, c.442-1G>A, c.1197A>T, c.721C>T and c.331C>T. The PAH gene detection kit provides the allele-specific scorpion primers and shared primers thereof of eight common mutation sites for detecting PAH genes, so that a joint detection platform can be constructed, synchronous joint detection can be realized, detection specificity canbe enhanced, costs can be reduced, and detection time can be shortened; and the kit has important significance on carrying out the screening, genetic counseling and prenatal diagnosis of people with phenylketonuria.

Description

Technical field [0001] The invention relates to the field of genes, in particular to a detection kit for diagnosing phenylketonuria (PKU) PAH gene. Background technique [0002] Phenylketonuria is a common autosomal recessive inherited disease caused by enzyme defects in the metabolic pathway of phenylalanine (Phe). 98-99% of PKU is due to decreased or significant lack of phenylalanine hydroxylase (PAH) activity. The decreased PAH activity prevents Phe from being converted into tyrosine (Tyr), leading to Phe in blood tissues The accumulation of its bypass metabolites and Tyr synthesis decrease. The incidence of PKU varies between races and regions, from 1 / 10000 to 1 / 16000 in my country. It is estimated that the carrier rate of PAH gene mutations (ie heterozygotes) in the population is about 1 / 53. [0003] The PAH gene is located on chromosome 12q24.1 and consists of approximately 1.5Mb bases. The PAH gene is a split gene, and the coding region contains 13 exons and 12 introns. ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6858
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2600/16C12Q2600/166C12Q2531/113C12Q2537/143C12Q2563/107C12Q2545/113
Inventor 李座祥郝彦哲闫有圣
Owner 北京杰智慧创科技发展中心
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