Mitochondrial T3866C detection kit of Leber disease, and application thereof

A T3866C, detection kit technology, applied in the direction of microbial determination/inspection, biochemical equipment and methods, etc., can solve the problems of strict PCR amplification conditions, increase of false negatives, etc., and achieve intuitive result interpretation, low cost, and detection process. easy effect
CN103173544BActive Publication Date: 2015-01-28ZHEJIANG UNIV
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Patents(China)
Current Assignee / Owner
ZHEJIANG UNIV
Publication Date
2015-01-28

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Abstract

The invention provides a mitochondrial T3866C detection kit of Leber disease, and an application thereof. The detection kit is composed of a DNA extraction mixed solution, a PCR mixed solution used for amplifying T3866C, outer primers and inner primers designed aiming at T3866C, a restriction endonuclease Bgl II, a positive control, and a negative control. According to the invention, genomic DNA is rapidly extracted from small amounts of samples such as blood samples, hair with follicle, oral mucosa smears, or saliva. Therefore, a problem of DNA extraction in primary Leber disease patient blood of traditional methods is solved, pain of patient to be detected is reduced, a problem of cross-region sample transferring is solved, enzyme digestion specificity is improved, false negative is avoided, and detection result stability is improved. The kit provided by the invention is rapid, simple, accurate, and economical. With the kit, primary-Leber-disease-related mtDNAT3866C mutation large-scale screening and preventive inspection can be implemented.
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Description

technical field

[0001] The invention belongs to the field of biological technology, relates to a kit for detecting the mitochondrial DNA T3866C mutation related to primary Leber's disease, and also relates to a detection method of mitochondrial gene mutation related to primary Leber's disease, in particular to Detection of mitochondria ND1 The method for the T3866C mutation, and the application of the above method or the above kit in detecting the mitochondrial DNA T3866C mutation associated with primary Leber's disease. Background technique

[0002] Leber's Hereditary Optic Neuropathy (Leber's Hereditary Optic Neuropathy, LHON, referred to as Leber's disease) is a type of optic neuropathy, mainly involving the retina and the anterior part of the sclera cribriform plate macular bundle fibers, leading to maternal genetic disease of optic nerve degeneration, Seriously affect people's normal production and life. According to the latest statistics from the Ministry of Health (...

Claims

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