Leber's hereditary optic neuropathy gene diagnosis kit or reagent

A technology for optic neuropathy and gene diagnosis, applied in the field of medical reagents, can solve the problems of kits and reagents that have not yet had wild mitochondrial DNA

Active Publication Date: 2014-09-17
同昕生物技术(北京)有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

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

Method used

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  • Leber's hereditary optic neuropathy gene diagnosis kit or reagent
  • Leber's hereditary optic neuropathy gene diagnosis kit or reagent
  • Leber's hereditary optic neuropathy gene diagnosis kit or reagent

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0065] Example 1 Leber hereditary optic neuropathy gene diagnosis kit of the present invention

[0066] Table 2 The composition of the kit (10 servings)

[0067] kit components

volume

effect

1. TransStart TM Green qPCR SuperMix(2X)

200ul

PCR reaction mix

2. Primer solutionⅠ

100ul

Primer mix to detect the 3460 mutation

3. Primer solutionⅡ

100ul

Primer mix to detect the 11778 mutation

4. Primer solutionⅢ

100ul

Primer mix to detect the 14484 mutation

5. negative control (1ng / ul)

50ul

negative control

6. Positive control (0.2ng / ul)

50ul

positive control

[0068] The DNA sequence of Primer solution I in Table 3 is:

[0069]

[0070] The sequence of Primer solution II in Table 4 is:

[0071]

[0072] The sequence of Primer solution III in Table 5 is:

[0073]

Embodiment 2

[0075] The kit of implementation 1 was taken in the following manner: 30 clinical blood samples were taken, and the sample DNA was first extracted using a DNA extraction kit, and the amount of DNA was adjusted to 1ng / ul. Negtive control and Positive control should be used as controls for each test.

[0076] 1) Configure the reaction system (20ul) in the following manner, mix well and place on Chromo4 quantitative PCR:

[0077] The way of adding samples is as follows:

[0078] Sample No. 1 needs 3 reaction tubes, and each tube detects a mutation point. For other samples, samples No. 2-30 are deduced by analogy.

[0079]

[0080]

[0081] Negative control reaction tube 3 tubes

[0082]

[0083] Positive control reaction tube 3 tubes

[0084]

[0085] 2) According to the following conditions for PCR reaction

[0086]

[0087] SyberGreen1 fluorescence was detected after the extension reaction.

[0088] 3 result judgment

[0089] 1) Threshold setting

[0090] C...

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PUM

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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...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6858C12Q2525/107C12Q2537/163
Inventor 张建珍焦守恕李全
Owner 同昕生物技术(北京)有限公司
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