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An SNP locus for detection of plaque corneal dystrophy

A malnutrition and plaque-like technology, applied in the direction of recombinant DNA technology, microbial measurement/testing, DNA/RNA fragments, etc., can solve the problems of shortage of surgical donors, many complications, irritation symptoms, etc.

Active Publication Date: 2019-01-18
SHANDONG EYE INST
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] The onset of plaque corneal dystrophy is early and the disease progresses gradually. It often affects both eyes and has a serious impact on vision. It is often accompanied by corneal epithelial erosion and irritation symptoms. There is no better treatment method except corneal transplantation. Insufficient body, many postoperative complications and easy recurrence, coupled with high cost of surgery, bring heavy economic and mental burden to the patient's family and society

Method used

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  • An SNP locus for detection of plaque corneal dystrophy
  • An SNP locus for detection of plaque corneal dystrophy
  • An SNP locus for detection of plaque corneal dystrophy

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0016] Example 1: Screening the mutation site of CHST6 gene from a family with plaque corneal dystrophy

[0017] 1. Extraction of peripheral blood genomic DNA:

[0018] In compliance with the relevant national policies and regulations, and on the basis of the consent of the sampling subject, draw 2-5ml of peripheral venous blood from the first family member, put it into an EDTA anticoagulant tube, and store it at -80°C for later use; the frozen EDTA anticoagulant blood After melting at room temperature, put 500 μL into a centrifuge tube, add an equal volume of TE (pH 8.0), mix well, centrifuge at 10,000 rpm for 10 minutes at 4°C, and discard the supernatant.

[0019] Add 180 μL TE, 20 μL SDS (10%), and 8 μL proteinase K (10 mg / ml) to mix well, and place in a 37° C. water bath overnight. Remove the sample from the water bath and briefly centrifuge to pellet the sample. Add an equal volume of Tris-saturated phenol (about 300 μL) to the reaction tube, mix thoroughly, centrifuge...

Embodiment 2

[0041] Example 2: Screening the mutation site of CHST6 gene from a family with plaque corneal dystrophy

[0042] Collection of pedigrees with plaque corneal dystrophy: pedigrees with definite diagnosis of plaque corneal dystrophy were collected in Shandong Eye Institute and Qingdao Eye Hospital.

[0043] Genomic DNA extraction from peripheral blood:

[0044] Take 2-5ml of peripheral venous blood from all members of the plaque corneal dystrophy family, put them into EDTA anticoagulant tubes, and freeze them at -80°C for later use; Centrifuge tubes were used to extract genomic DNA from the peripheral blood of each member of the family using the conventional phenol-chloroform method described in Example 1.

[0045] PCR amplification target fragment: reaction conditions and reaction system:

[0046] (1) PCR reaction conditions: 94°C for 3 min; 94°C for 40 sec, 57°C for 40 sec, 72°C for 60 sec, 30-35 cycles; 72°C for 10 min.

[0047] (2) Reaction system: (TAKARA LA Taq polymeras...

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Abstract

The invention provides an SNP (single nucleotide polymorphism) locus for detection of macular corneal dystrophy. The SNP locus is a 250th-272th basic group from an initiation codon in a CHST6 gene coding region. Due to providing of a new usage of a CHST6 gene, an effective approach of macular corneal dystrophy gene diagnosis, prenatal gene screening and genetic counseling is provided. According to application effects, the SNP locus and detection primers can be effectively applied to fast CHST6 gene mutation site test of clinical patients and chorionic villus or amniotic fluid.

Description

technical field [0001] The invention belongs to the technical field of gene diagnosis products, and in particular relates to a SNP site for detecting plaque corneal dystrophy. Background of the invention [0002] Macular corneal dystrophy (MCD) is an autosomal recessive genetic disease characterized by progressive foggy opacity of bilateral corneal stroma and thinning of the central cornea. It is relatively rare in clinical practice, but the onset is serious. Vision is significantly affected in the early stage. Patients usually develop symmetrical eyes before the age of 10, and the vision declines. The condition becomes more obvious at the age of 20, with symptoms of photophobia, tearing and vision loss. The early stage of corneal lesions manifests as fine clouds in the superficial stromal layer of the central cornea. Turbid, some translucent ring. Afterwards, these small turbidities gradually merged into polymorphic and irregular gray-white samples, which extended to the ...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 陈鹏郝晓丹孙大鹏赵晓雯王瑶
Owner SHANDONG EYE INST
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