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Primer probe for diagnosing corneal dystrophy caused by mutation of site 124 of human TGFbetaI gene and detection method

A dystrophy, primer probe technology, applied in biochemical equipment and methods, microbial determination/inspection, DNA/RNA fragments, etc., can solve problems such as corneal dystrophy, achieve high annealing Tm value, and high primer matching rate , a strong specific effect

Inactive Publication Date: 2018-03-30
奥斯汀生命科学技术公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0008] L124RBCD, causing Reis-Buckler corneal dystrophy

Method used

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  • Primer probe for diagnosing corneal dystrophy caused by mutation of site 124 of human TGFbetaI gene and detection method
  • Primer probe for diagnosing corneal dystrophy caused by mutation of site 124 of human TGFbetaI gene and detection method
  • Primer probe for diagnosing corneal dystrophy caused by mutation of site 124 of human TGFbetaI gene and detection method

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0064] A primer probe for diagnosing corneal dystrophy caused by the 124-site variation of human TGFβI gene, comprising the following sequence:

[0065] For amplifying the specific primer pair of TGFβI gene 124 sites, the base sequence of the specific primer pair is as follows:

[0066] F: 5'-CTTCTGTCTTCTGCTCCTGCAG-3';

[0067] R: 5'-CAGACGGAGGTCATCTCACAG-3';

[0068] For the specific wild-type Taqman fluorescent probe of wild-type site R124, the base sequence of the fluorescent probe is as follows:

[0069] R124: 5'-FAM-GTACACGGACCGCACGGAG-MGB-3';

[0070] Two specific mutant Taqman fluorescent probes for mutant sites C124 and H124 respectively, the base sequences of the fluorescent probes are as follows:

[0071] C124: 5'-JOE-GTACACGGACTGCACGGAG-MGB-3';

[0072] H124: 5'-ROX-GTACACGGACCACACGGAG-MGB-3'.

Embodiment 2

[0074] A primer probe for diagnosing corneal dystrophy caused by the 124-site variation of human TGFβI gene, comprising the following sequence:

[0075] For amplifying the specific primer pair of TGFβI gene 124 sites, the base sequence of the specific primer pair is as follows:

[0076] F: 5'-CTTCTGTCTTCTGCTCCTGCAG-3';

[0077] R: 5'-CAGACGGAGGTCATCTCACAG-3';

[0078] For the specific wild-type Taqman fluorescent probe of wild-type site R124, the base sequence of the fluorescent probe is as follows:

[0079] R124: 5'-FAM-GTACACGGACCGCACGGAG-MGB-3';

[0080] For the specific mutant Taqman fluorescent probe of mutant site L124, the base sequence of the fluorescent probe is as follows:

[0081] L124: 5'-CY5-GTACACGGACCTCACGGAG-MGB-3'.

Embodiment 3

[0083] A primer probe for diagnosing corneal dystrophy caused by the 124-site variation of human TGFβI gene, comprising the following sequence:

[0084] For amplifying the specific primer pair of TGFβI gene 124 sites, the base sequence of the specific primer pair is as follows:

[0085] F: 5'-CTTCTGTCTTCTGCTCCTGCAG-3';

[0086] R: 5'-CAGACGGAGGTCATCTCACAG-3';

[0087] For the specific wild-type Taqman fluorescent probe of wild-type site R124, the base sequence of the fluorescent probe is as follows:

[0088] R124: 5'-FAM-GTACACGGACCGCACGGAG-MGB-3';

[0089] For the specific mutant Taqman fluorescent probe of mutant site S124, the base sequence of the fluorescent probe is as follows:

[0090] S124: 5'-CY5-GTACACGGACAGCACGGAG-MGB-3'.

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Abstract

The invention provides a primer probe for diagnosing corneal dystrophy caused by mutation of a site 124 of a human TGFbetaI gene. The primer probe comprises a specific primer designed for the site 124of the TGFbetaI gene, a specific wild type Taqman fluorescent probe for a wild type site R124, and at least one of four specific mutation type Taqman fluorescent probes for mutation type sites C124,S124, H124 and L124, wherein each probe is connected with a different fluorescent report group, so as to collect different fluorescent signals to detect, and internal references are not added. The invention further provides a primer probe-based detection method for mutation of the site 124 of the human TGFbetaI gene. The detection method has advantages of being highly sensitive, highly specific, being not easy to contaminate, being highly accurate, and being convenient and quick, and is applicable to clinical case analysis and inspection work.

Description

technical field [0001] The invention belongs to the technical field of gene site mutation detection, and in particular relates to a primer probe and a detection method for diagnosing corneal dystrophy caused by the 124 site mutation of human TGFβI gene. Background technique [0002] Corneal dystrophy is a group of symmetrical and hereditary diseases of both eyes. Under the induction of a certain gene abnormality, proteins in different layers of the cornea aggregate atypically, and deposits are gradually formed to make the cornea turbid and lose its transparency. Severe Affect the vision and quality of life of patients. Human transforming growth factor-beta induce (TGFβI) gene, also known as βIGH3 gene, is the first confirmed corneal dystrophy gene, and more than 50% of human corneal dystrophy is caused by certain mutations in BIGH3 . Excimer laser therapeutic keratectomy (PTK) is currently used clinically for the treatment of myopia. It is recommended to do PTK. [0003]...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/11
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2600/166C12Q2531/113C12Q2561/101C12Q2521/531
Inventor 王瀚生
Owner 奥斯汀生命科学技术公司
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