Leber's hereditary optic neuropathy gene diagnosis kit or reagent

Abstract

The invention relates to the field of medicine, and particularly relates to a Leber's hereditary optic neuropathy (LHON) gene diagnosis kit or reagent comprising a PCR primer mixture liquid; the primer mixture liquid comprises a pentose nucleic acid (PNA) probe for sealing a wild-type mitochondrion (which is a normal human mitochondrion without generation of mutation) deoxyribonucleic acid (DNA) and forward and reverse primers for amplifying mutant-type mitochondrion DNA. The kit or reagent has the advantages of simple operation, high sensitivity and good specificity, and is an efficient, sensitive, stable and specific LHON gene diagnosis detection technology.

Description

technical field [0001] The invention belongs to the field of medical reagents, in particular to a gene detection or diagnosis kit. Background technique [0002] Leber's hereditary optic neuropathy (LHON) is a common ophthalmic disease that mainly affects young people, with an average age of onset of 27-34 years, but some patients are younger than 1 year old or older than 70 years old. Patients generally present with acute or subacute visual loss, first involving one eye, and later developing to high myopia or even complete loss of vision in both eyes. Clinical examination revealed scotoma in the center of the patient's field of vision and varicose veins around the optic nerve head. Studies at the molecular level have found that mutations in the mitochondrial genome (mtDNA) are the main cause of the disease. [0003] It was not until 1988 that Wallance and colleagues reported for the first time the G11778A point mutation of the mitochondrial nicotinamide adenine dinucleotid...

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Problems solved by technology

At the same time, there are no reports of kits and reagents that can exclude a large amount of wild mitochondrial DNA

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