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Method for detecting 13 kinds of novel mutation of PAH gene

A detection method and gene technology, applied in the field of detection of 13 new mutations of PAH gene, can solve the problem of undiscovered PAH gene detection method, etc.

Inactive Publication Date: 2009-07-15
XIN HUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE +1
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  • Abstract
  • Description
  • Claims
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Problems solved by technology

[0003] After searching the existing literature, no reports related to the subject of the detection method for the 13 new mutations of the PAH gene were found

Method used

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  • Method for detecting 13 kinds of novel mutation of PAH gene
  • Method for detecting 13 kinds of novel mutation of PAH gene
  • Method for detecting 13 kinds of novel mutation of PAH gene

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Embodiment

[0032] Step 1: Design a pair of allele-specific nucleic acid primers using the exon 4 or 5 or 6 or 7 or 10 or 11 or 12 of the PAH gene in the GenBank database and the exon-intron junction sequence as templates , use the primer pair to amplify the DNA sequence of the corresponding exon of the PAH gene, separate and purify the amplified product, and obtain the corresponding isolated nucleic acid

[0033] Primer design:

[0034] Using Primer 5.0 software, 7 pairs of alleles were designed using exons 4, 5, 6, 7, 10, 11, and 12 of the Genebank database PAH gene (NM_000277) and the sequences of the corresponding exons and intron junctions as templates. Gene-specific nucleic acid primers were synthesized by Shanghai Sangon Biotechnology Co., Ltd. The PAH gene sequence can be obtained from the GeneBank database. The PAH gene sequence is shown in SEQ NO.1, and the genome sequence of the exons of the PAH gene can be obtained from the GeneBank.

[0035] Primer information:

[0036] DN...

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Abstract

A method for detecting 13 novel mutations of a PAH gene in the biotechnology field comprises the following steps: step 1, a fourth or a fifth or a sixth or a seventh or a tenth or an eleventh or a twelfth exon of the PAH gene and a sequence of the joint part of exons and introns in a GenBank database are used as a template for designing a pair of allele-specific nucleic acid primers; the primers are used to amplify a DNA sequence of corresponding exons of the PAH gene; the amplified product is separated and purified, and a corresponding separated nucleic acid is obtained; and step 2, whether nucleotide of the exons of the PAH gene of the separated nucleic acid is mutated is detected. The method provides a basis for a molecular genetic technology which further develops mutation varieties and frequencies of a PKU gene, and has an important practical value.

Description

technical field [0001] The invention relates to a gene mutation detection method in the field of biotechnology, in particular to a detection method for 13 new mutations of the PAH (phenylalanine hydroxylase) gene. Background technique [0002] Phenylketonuria (PKU) is a common pre-metabolic disease that can cause different degrees of intellectual impairment in children. It belongs to autosomal recessive inheritance, and its OMIM number is 261600. The main pathogenic gene of PKU is the PAH gene, which was located at 2q22-24 in 1983. With the continuous and in-depth research on PAH gene mutation molecules, until July 2007, http: / / www.pahdb.mcgill A total of 513 mutations were recorded in .ca / (International PAH Database). The PAH gene is located on chromosome 12q24.1 and consists of about 1.5Mb bases. The coding region of the PAH gene consists of 13 exons separated by 12 non-coding introns. After transcription and splicing, a 1353bp mRNA is formed, and the latter is transl...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
Inventor 顾学范朱天闻秦胜营
Owner XIN HUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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