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In-vitro diagnostic kit of Leber hereditary optic neuropathy

A diagnostic kit and technology for optic neuropathy, which can be used in the determination/examination of microorganisms, biochemical equipment and methods, etc., can solve the problems of limited clinical use, complicated procedures, and high missed diagnosis rate, so as to reduce medical expenses and improve the quality of the population. , no false positive effect

Active Publication Date: 2014-08-13
CHILDRENS HOSPITAL OF CHONGQING MEDICAL UNIV +1
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  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Although some gene analysis methods are currently trying to screen and analyze LHON mtDNA mutations, their clinical application is limited due to factors such as high cost, complicated procedures, long time-consuming, and high rate of missed diagnosis.

Method used

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  • In-vitro diagnostic kit of Leber hereditary optic neuropathy
  • In-vitro diagnostic kit of Leber hereditary optic neuropathy
  • In-vitro diagnostic kit of Leber hereditary optic neuropathy

Examples

Experimental program
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Effect test

Embodiment 1

[0032] 1. Sample: DNA extracted from human whole blood (50-100ng / ul). Samples 1 and 2 are normal controls, which means that the amplification template is derived from normal human blood DNA without the following three mutations; samples 3 and 4 are homozygous mutants, which means that the amplification template is derived from the three sites positive reference plasmid DNA, the positive reference plasmid is m.11778G>A; m.14484T>C; m.3460G>A artificial mutation fragment plasmid; The amplification template is derived from the mixed template of positive reference plasmid and non-mutated normal human blood DNA.

[0033] 2. Reagents: Hot Start Green Master Mix, 2×: Contains 2×Green Go Taq Reaction Buffer (pH8.5), 400μM dATP, 400μM GATP, 400μM dCTP, 400μM dTTP, 4mM MgCl 2 , Nuclease-Free Water, DNA polymerase.

[0034] 3. T-ARMS-PCR reaction system and amplification procedure

[0035] ①Use the following primers, systems and procedures to perform PCR amplification on each sample...

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PUM

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Abstract

The invention provides an in-vitro diagnostic kit of Leber hereditary optic neuropathy (LHON). The in-vitro diagnostic kit comprises SEQIDNO.1-12. The in-vitro diagnostic kit provides a rapid, accurate and cheap genetic level detection means for the clinic diagnosis of the LHON, can realize the prevention and early-stage timely diagnosis of the LHON, can find high risk group, improves the diagnosis rate of the HLON, can effectively realize antenatal genetic counseling and premarital counseling, improves the population quality, and reduces the family and national medical expenditure.

Description

technical field [0001] The invention relates to a diagnostic kit for in vitro diagnosis of Leber hereditary optic neuropathy. Background technique [0002] Leber hereditary optic neuropathy (LHON) is a mitochondrial hereditary disease characterized by maternal inheritance, and is one of the most common hereditary optic nerve diseases clinically so far. The main clinical manifestation of LHON is acute or subacute loss of central vision in both eyes. It is also one of the main causes of blindness in adolescents and seriously threatens the health of adolescents. [0003] Although many clinical examination methods such as fundus fluorescein angiography (FFA) and electroretinogram (ERG) are helpful for the auxiliary diagnosis of LHON; but for the early stage of hereditary LHON lesions, most patients have no family history or no family history. Clearly, the mild clinical manifestations, such as only optic nerve damage, make its early clinical diagnosis and treatment very difficul...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6848C12Q1/6858C12Q2531/113C12Q2545/101
Inventor 黄轶李阳宋利华
Owner CHILDRENS HOSPITAL OF CHONGQING MEDICAL UNIV
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