Detection method of gene mutation of mitochondrial succinate dehydrogenase and kit

A technology of succinate dehydrogenase and mitochondria, applied in the field of detection methods and kits of mitochondrial succinate dehydrogenase gene mutations, can solve problems such as high complexity and difficulty in obtaining gene fragments
CN101684486AInactive Publication Date: 2010-03-31RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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Patent Information

Authority / Receiving Office
CN · China
Current Assignee / Owner
RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
Publication Date
2010-03-31
Estimated Expiration
Not applicable · inactive patent

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Abstract

The invention discloses a reagent for detecting whether gene mutation of mitochondrial succinate dehydrogenase (SDH) exists in samples and a kit containing the reagent. The reagent or the kit can be used for susceptibility analysis of pheochromocytoma. The invention also discloses an optimized method by which SDH gene amplification products are obtained and a method for determining whether gene mutation of SDH exists in the nucleic acid samples to be tested.
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Description

technical field

[0001] The invention belongs to the field of biotechnology, and more specifically, the invention relates to a method and a kit for detecting the mutation of the mitochondrial succinate dehydrogenase (SDH) gene. Background technique

[0002] Familial paragangliomas of the head and neck are benign tumors of nonchromaffin tissues of the head and neck, most commonly located in the carotid body. As chemoreceptors, the carotid body can sense the hypoxic stimulation in the circulation, and then produce a series of systemic responses, and chronic hypoxia can lead to carotid body cell hyperplasia. The adaptive response of mammalian cells to hypoxia depends on the function of mitochondria, by increasing the production of reactive oxygen species (ROS) and then activating erythropoietin ( EPO), vascular endothelial growth factor (VEGF), and transcription of glycolytic enzymes, ultimately increasing oxygen delivery and promoting glycolytic ATP production. Thus, mitochon...

Claims

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