A kit for identifying the enzyme activity of wild-type and mutant-type proteasome of X-linked hypophosphatemic rickets PHEX gene

A proteosome enzyme and wild-type technology, applied in the medical field, can solve the problems of inability to identify the function of PHEX gene mutations from patients and cumbersome experiments

Inactive Publication Date: 2020-07-03
JIANGSU CANCER HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, only less than 20 PHEX mutations have been functionally evaluated, and the functional evaluation is currently a research nature, and the experiment is cumbersome, so it is impossible to quickly identify the function of the patient-derived PHEX gene mutation

Method used

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  • A kit for identifying the enzyme activity of wild-type and mutant-type proteasome of X-linked hypophosphatemic rickets PHEX gene
  • A kit for identifying the enzyme activity of wild-type and mutant-type proteasome of X-linked hypophosphatemic rickets PHEX gene
  • A kit for identifying the enzyme activity of wild-type and mutant-type proteasome of X-linked hypophosphatemic rickets PHEX gene

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Experimental program
Comparison scheme
Effect test

Embodiment 1

[0031] 1. Construction of secreted PHEX recombinant expression vector

[0032] The PHEX-cDNA template was synthesized by Changsha Youbao Company, and the target vector pcDNA-3.1 was digested with XhoI and BamhI at the same time (such as figure 1 Shown, respectively, are the pcDNA3.1 plasmid map and its multiple cloning site), the enzyme digestion system is as follows:

[0033]

[0034] The reaction conditions are 37°C, 2h.

[0035] (3) Agarose gel electrophoresis: Take 0.375g of agarose powder and add it to 25ml of 0.5×TBE buffer, heat it in a microwave oven until the agarose is completely dissolved, cool to about 50°C, add 2μl of GelStain and mix slowly, then pour into the gel-making tank After 30 minutes of complete solidification, pull out the comb, put it into the electrophoresis tank, add an appropriate amount of 0.5 × TBE buffer, take the PCR product, add an appropriate amount of 10 × loading buffer to the product after double enzyme digestion, and add the sample to ...

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Abstract

The invention discloses a kit for identifying the enzyme activity of wild-type and mutant-type proteasome of X-linked hypophosphatemic rickets PHEX gene. The kit includes a wild-type and a mutant secretory-type PHEX gene and host cells. The kit can perform rapid functional identification of PHEX gene mutation, provide a target for designing drugs for further treatment of the disease, and provide atheoretical basis for elucidating the pathogenic mechanism of the disease.

Description

technical field [0001] The present invention belongs to the field of medicine. Specifically, it relates to a kit for identifying wild-type and mutant proteosome enzyme activities of X-linked hypophosphatemic rickets PHEX gene, and a detection method using the kit. 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, defective bone calcification, impaired phosphorus reabsorption by the proximal convoluted renal tubule, and insufficient production ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/37C12N15/85
CPCC12N15/85C12Q1/37
Inventor 周益琴王春莉张爱华郑必霞周玮贾占军陈颖沙玉根
Owner JIANGSU CANCER HOSPITAL
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