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Specific primer for detecting phenylalanine hydroxylase gene mutation spectrums

A technique for detecting phenylalanine hydroxylase and primers, which is applied in the field of molecular biology, can solve the problems of the lack of research literature on PAH gene mutations, and achieve the effect of appropriate length and high amplification efficiency

Pending Publication Date: 2018-07-27
XUZHOU MATERNITY & CHILD HEALTH CARE HOSPITAL
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

At present, there are few literatures on PAH gene mutation in Huaihai area

Method used

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  • Specific primer for detecting phenylalanine hydroxylase gene mutation spectrums
  • Specific primer for detecting phenylalanine hydroxylase gene mutation spectrums
  • Specific primer for detecting phenylalanine hydroxylase gene mutation spectrums

Examples

Experimental program
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Effect test

Embodiment 1

[0039] 1) The instruments and equipment used in this embodiment are shown in Table 2 below.

[0040] Table 2 Instruments and equipment used

[0041]

[0042] 2) Preparation of various reaction solutions and gels

[0043] 2.1 MIX enzyme was purchased from Dalian Bao Biological Co., Ltd., and the forward and reverse primers were synthesized by Shanghai Handsome Biological Company.

[0044] 2.2 Preparation of 10*TBE buffer

[0045] Preparation process: use 108g Tris base, 9.3g EDTA, 55g boric acid, add sterilized distilled water to 1000ml (PH value should be 8.0-8.2);

[0046] When used, dilute to 5*TBE and 1*TBE solutions with sterilized distilled water respectively.

[0047] 2.3 Preparation of 30% acrylamide

[0048] Preparation process: Use 29g of acrylamide, 1g of N,N,-methylenebisacrylamide, add water to 100ml, dissolve at 37°C, store in a brown bottle at 4°C.

[0049] 2.4 Preparation of 10% ammonium persulfate (APS)

[0050] Preparation process: Dissolve 10g of amm...

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Abstract

The invention discloses a specific primer for detecting phenylalanine hydroxylase gene mutation spectrums, and belongs to the technical field of molecular biology. The specific primer comprises 13 primers. An amplification region includes 13 exons and flanking regions thereof. The genetic primer has corresponding specificity and proper length, efficient amplification is realized, secondary structures and hairpin structures are not formed, and fake triggering is avoided. Propositus PAH (phenylalanine hydroxylase) gene mutation analysis is performed through the primer according to a layering research method, and the method is simple, efficient, economical and practical. By the specific primer, an approach is provided for research on PKU (phenylketonuria) pathogenesis molecular mechanisms.

Description

technical field [0001] The invention relates to a specific primer for detecting mutation spectrum of phenylalanine hydroxylase gene, which belongs to the technical field of molecular biology. Background technique [0002] Phenylketonuria (PKU) is an autosomal recessive genetic disease. The incidence of PKU in the Chinese population is 1 / 11000. The disease is caused by the reduction or loss of PAH activity due to the mutation of phenylalanine hydroxylase (PAH) gene, and the metabolic disorder of phenylalanine (Phe) in the liver. In severe cases, it can cause mental retardation or die. The diagnosis of the disease depends on the detection of the concentration of phenylalanine in the serum, the normal concentration is less than 120 μmol / L (2 mg / dl), and the classic PKU is greater than 1200 μmol / L. Treatment is primarily a lifelong low-phenylalanine diet. [0003] PKU was the first diagnosed metabolic disease causing mental retardation. PKU was discovered as early as 1934 a...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6858C12Q1/6869C12N15/11
CPCC12Q1/6858C12Q1/6869C12Q1/6883C12Q2600/156C12Q2531/113C12Q2565/131C12Q2535/101
Inventor 庞永红彭磊于洋
Owner XUZHOU MATERNITY & CHILD HEALTH CARE HOSPITAL
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