X-linked hypophosphatemic rickets virulence gene mutation detection primer and application thereof

A technology for the detection of primers and pathogenic genes, applied in the biological field, can solve the problems of delayed treatment, large differences in severity, misdiagnosis, etc., and achieve the effect of reducing the incidence rate

Inactive Publication Date: 2017-01-04
NANJING CHILDRENS HOSPITAL AFFILIATED TO NANJING MEDICAL UNIV
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  • Abstract
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Problems solved by technology

However, the clinical manifestations of patients with X-linked hypophosphatemic rickets are diverse, and the severity varies greatly. At present, th

Method used

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  • X-linked hypophosphatemic rickets virulence gene mutation detection primer and application thereof
  • X-linked hypophosphatemic rickets virulence gene mutation detection primer and application thereof
  • X-linked hypophosphatemic rickets virulence gene mutation detection primer and application thereof

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[0013] Example 1:

[0014] This test kit mainly includes the following components:

[0015] 1. 22 pairs of PCR amplification and sequencing primers for the 1st to 22nd exon regions of the PHEX gene, see Table 1;

[0016] 2. Conventional PCR amplification reagents, such as dNTP, Taq DNA polymerase, etc.;

[0017] 3. Conventional PCR product purification reagents, such as sodium acetate, ethanol solution, etc.;

[0018] 4. Conventional DNA sequencing reagents, such as BigDye mix, EDTA solution, ethanol solution, HIDI solution, etc.

[0019] Table 1 PCR amplification primers for 22 exons of PHEX gene

[0020]

[0021]

[0022] The steps of using this kit include:

[0023] 1. Extract genomic DNA from the sample;

[0024] 2. PCR amplification:

[0025] The PHEX gene sequence in the present invention is derived from the human genome DNA database (NCBI, Genebank NG_007563.2). According to the 22 exons and flanking sequences of the PHEX gene, primer design software Primer5...

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Abstract

The invention discloses an X-linked hypophosphatemic rickets virulence gene mutation detection primer and application thereof. The primer is shown in SEQ ID NO.1-44. The detection primer and a kit thereof can be used for detecting a mutant of an X-linked hypophosphatemic rickets virulence gene PHEX gene, can rapidly and conveniently find out a carrier and a patient with the virulence gene, and can also be applied to antenatal diagnosis, birth of a fetus suffering from X-linked hypophosphatemic rickets can be avoided, and the morbidity of the X-linked hypophosphatemic rickets can be lowered.

Description

technical field [0001] The invention belongs to the field of biological technology, and in particular relates to primers for detection of X-linked hypophosphatemic rickets pathogenic gene mutations and applications thereof. Background technique [0002] Hypophosphatemic rickets is a common metabolic bone disease in children. It is a group of diseases caused by poor bone mineralization and osteomalacia due to low blood phosphorus level and insufficient production of active vitamin D. Among them, X-linked hypophosphatemic rickets is the most common hereditary hypophosphatemic rickets, the incidence rate is about 1:20000, accounting for more than 80% of hereditary hypophosphatemic rickets, and its clinical characteristics mainly include growth and development Retardation, short stature, hypophosphatemia, defects in bone calcification, impairment of phosphorus reabsorption in the proximal convoluted renal tubule, and insufficient generation of 1,25-(OH)2-D3. In 1995, the intern...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 郑必霞张爱华陈颖王春莉
Owner NANJING CHILDRENS HOSPITAL AFFILIATED TO NANJING MEDICAL UNIV
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