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Kit for simultaneously detecting various inherited metabolic liver diseases

A detection kit and the technology of the kit are applied in the determination/inspection of microorganisms, DNA/RNA fragments, recombinant DNA technology, etc., which can solve the problems of lack of sensitivity and specificity, and achieve the effect of a reliable clinical detection platform.

Inactive Publication Date: 2017-07-18
BEIJING DITAN HOSPITAL CAPITAL MEDICAL UNIV
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  • Abstract
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Problems solved by technology

At present, there are commercial genetic diagnostic reagents for single diseases (such as Wilson disease, hereditary hemochromatosis) on the market in foreign countries, but there is a lack of genetic diagnostic tools with good sensitivity and specificity for rapid screening of a variety of common inherited metabolic liver diseases
However, there is still no related kit that has been approved by the State Food and Drug Administration (SFDA) for clinical testing in China.

Method used

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  • Kit for simultaneously detecting various inherited metabolic liver diseases
  • Kit for simultaneously detecting various inherited metabolic liver diseases
  • Kit for simultaneously detecting various inherited metabolic liver diseases

Examples

Experimental program
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Effect test

Embodiment approach

[0204] Synthesize specific primers for common mutation sites of hemochromatosis HAMP, HFE, HJV, TFR2, and SLC40A1 genes;

[0205] Using human genomic DNA as a template, the gradient PCR method was used to determine the optimal annealing temperature and verify the specificity of primer amplification;

[0206] After the above PCR products were gel-recovered and sequenced, they were compared with known target sequences to verify the feasibility of the method.

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Abstract

The invention discloses a kit for simultaneously detecting various inherited metabolic liver diseases. The kit is a PCR detection kit and comprises a PCR reaction system reagent, a primer and a positive control group. The genetic locus detected by the kit comprises a hyperbilirubinemia genetic locus, a wilson disease genetic locus and / or hemochromatosis genetic locus. The kit disclosed by the invention has the beneficial effects that a molecular biological technique is utilized to establish a convenient, sensitive and reliable clinical test platform for the relatively backward diagnosis and treatment level for the inherited metabolic liver diseases at present stage in China and various common inherited metabolic liver diseases can be diagnosed and identified at one time within a shorter period of time.

Description

technical field [0001] The invention relates to the technical field of biomedical detection, in particular to a kit for simultaneously detecting multiple genetic metabolic liver diseases. Background technique [0002] Inherited metabolic liver disease mostly occurs in infancy or childhood, and is an important cause of difficult and severe liver diseases in infants and children, accounting for more than 30% of liver transplant cases in children. Without early diagnosis and effective intervention and treatment, the disease will progressively worsen, leading to end-stage liver disease and failure of extrahepatic organs. On the contrary, if effective early screening of patients with "unexplained abnormal liver function" is carried out, such diseases can be diagnosed as early as possible, and early treatment or even simple dietary intervention can block the progression of the disease and improve the clinical prognosis. Therefore, the establishment of simple, rapid and reliable d...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 闫杰王伟谢雯赵红
Owner BEIJING DITAN HOSPITAL CAPITAL MEDICAL UNIV
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