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Reagent kit for diagnosing mitochondrial encephalomyopathy and application

A diagnostic kit and a technology for diagnostic reagents, applied in the field of medical diagnosis, can solve the problem of undiagnosed mitochondrial encephalomyopathy and the like

Active Publication Date: 2019-11-15
WUHAN CHILDRENS HOSPITAL
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

There is no definite gene associated with mitochondrial encephalomyopathy, and the results of mitochondrial gene testing cannot diagnose mitochondrial encephalomyopathy at present

Method used

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  • Reagent kit for diagnosing mitochondrial encephalomyopathy and application
  • Reagent kit for diagnosing mitochondrial encephalomyopathy and application
  • Reagent kit for diagnosing mitochondrial encephalomyopathy and application

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Embodiment Construction

[0033] In order to make the object, technical solution and advantages of the present invention more clear, the present invention will be further described in detail below in conjunction with the examples. It should be understood that the specific embodiments described here are only used to explain the present invention, not to limit the present invention. In addition, the technical features involved in the various embodiments of the present invention described below can be combined with each other as long as they do not constitute a conflict with each other.

[0034] The ECHS1 gene is located on chromosome 10q26.2-q26.3. The ECHS1 gene encodes the mitochondrial short-chain propyleneoxyethyl-CoA hydratase (short-chain enoyl-CoA hydratase, sceh or echs1), which localizes to the mitochondrial matrix and catalyzes the hydration of enoyl-CoA in many metabolic pathways, Includes short-chain fatty acid beta-oxidation and branching. Amino acid catabolism, mitochondrial enzymes catal...

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Abstract

The invention discloses a reagent kit for diagnosing mitochondrial encephalomyopathy and an application. The reagent kit for diagnosing mitochondrial encephalomyopathy comprises an ECHS1 gene order detecting reagent, wherein the ECHS1 gene order detecting reagent is applied to the preparation of a mitochondrial encephalomyopathy diagnosis reagent. According to the reagent kit for diagnosing mitochondrial encephalomyopathy and the application of the reagent kit disclosed by the invention, through determining the incidence relation between an ECHS1 gene and the mitochondrial encephalomyopathy, particularly the situation that the mitochondrial encephalomyopathy is caused by rare mutation c.414+5G >A of an intron 3 of the ECHS1 gene, the reagent kit for diagnosing the mitochondrial encephalomyopathy and an application of the ECHS1 gene order detecting reagent are provided, and important genetic bases is provided for diagnosing and making a definite diagnosis for the mitochondrial encephalomyopathy.

Description

technical field [0001] The invention belongs to the field of medical diagnosis, and more specifically relates to a diagnostic kit for mitochondrial encephalomyopathy and its application. Background technique [0002] Mitochondrial damage-related diseases are mainly caused by genetics and mainly include various types of clinical phenotypes. Most cases have brain abnormalities, but few clinical cases have brain abnormalities alone. In addition, it is very difficult to make a definite diagnosis of diseases related to mitochondrial damage in patients, especially infants. Various genetic mutations in nuclear genes encoding mitochondrial proteins may lead to mitochondrial dysfunction and are the core cause of mitochondrial damage-related diseases. Understanding the relationship between the clinical manifestations of mitochondrial damage-related diseases and genetic mutations is of great significance for establishing a diagnosis and preventing misdiagnosis. [0003] Mitochondria...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Q2600/156Y02A50/30
Inventor 孙丹高雯琪钱乔乔马洁卉邓志芳刘智胜肖晗方方
Owner WUHAN CHILDRENS HOSPITAL
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