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Diagnostic product for detecting Axenfeld-Rieger syndrome

A technology for syndromes and products, applied in DNA/RNA fragments, recombinant DNA technology, determination/examination of microorganisms, etc.

Active Publication Date: 2015-02-18
SHANDONG EYE INST
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0007] However, known genes can only explain the onset of a small number of patients, which has become a bottleneck in the study of the pathogenesis of Axenfeld-Rieger syndrome and the diagnosis and treatment of the cause.

Method used

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  • Diagnostic product for detecting Axenfeld-Rieger syndrome
  • Diagnostic product for detecting Axenfeld-Rieger syndrome
  • Diagnostic product for detecting Axenfeld-Rieger syndrome

Examples

Experimental program
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Effect test

Embodiment 1

[0029] Example 1: Screening of mutation sites of MMRN1 gene from Axenfeld-Rieger syndrome families

[0030] 1. Extract genomic DNA from peripheral blood:

[0031] In line with the relevant national policies and regulations, and on the basis of the consent of the sampling subjects, 2-5 ml of peripheral venous blood from the first Axenfeld-Rieger syndrome family member was drawn, placed in an EDTA anticoagulation tube, and frozen at -80 °C for future use; After the EDTA anticoagulant was thawed at room temperature, 500 μL was taken into a centrifuge tube, an equal volume of TE (pH 8.0) was added, mixed well, centrifuged at 4°C and 10,000 rpm for 10 minutes, and the supernatant was discarded.

[0032] Add 180 μL TE, 20 μL SDS (10%), 8 μL proteinase K (10 mg / ml), mix well, and place in a 37° C. water bath overnight. Remove the sample from the water bath and briefly centrifuge the sample to pellet. An equal volume of Tris-saturated phenol (about 300 μL) was added to the reaction ...

Embodiment 2

[0075] Example 2: Screening for mutation sites of MMRN1 gene in patients with congenital sporadic Axenfeld-Rieger syndrome

[0076] Collection of sporadic patients with Axenfeld-Rieger syndrome: The sporadic patients with Axenfeld-Rieger syndrome with a clear diagnosis were collected in Shandong Eye Research Institute and Qingdao Eye Hospital.

[0077] Extraction of peripheral blood genomic DNA:

[0078] 2-5ml of peripheral venous blood of the sporadic Axenfeld-Rieger syndrome patients and their mothers were drawn respectively, put into EDTA anticoagulation tubes, and frozen at -80 ℃ for future use; after the cryopreserved EDTA anticoagulation was thawed at room temperature, 500 μL was taken and placed in EDTA anticoagulation tubes. In a centrifuge tube, the conventional phenol-chloroform method described in Example 1 was used to extract genomic DNA from the peripheral blood of each member of the family.

[0079] PCR amplification of the target fragment: Reaction conditions a...

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Abstract

The invention aims at providing application of an MMRN1 gene to preparation of a diagnostic product for detecting an Axenfeld-Rieger syndrome, provides novel application of the MMRN1 gene, and provides a way for effectively performing gene diagnosis of the congenital Axenfeld-Rieger syndrome disease, prenatal genetic screening and genetic counseling. The application effect shows that an SNP (single nucleotide polymorphism) site and a detection primer of the provided gene can be effectively used for quickly detecting MMRN1 gene mutation sites of fetal villi or amniotic fluids of clinical patients and fetuses.

Description

technical field [0001] The invention belongs to the technical field of gene diagnostic product preparation, and particularly relates to a diagnostic product for detecting Axenfeld-Rieger syndrome. Background of the Invention [0002] Axenfeld-Rieger syndrome refers to a group of developmental disorders with bilateral developmental defects, with or without systemic dysplasia, characterized by: bilateral developmental defects; may be associated with systemic dysplasia; secondary glaucoma; autosomal Dominant inheritance, mostly family history, and sporadic cases reported; the incidence is the same in men and women. There is currently no effective treatment, and the prognosis is poor. [0003] The clinical features of Axenfeld-Rieger syndrome are as follows: (1) Presence of embryonic ring behind the cornea: It is a typical feature of this disease, which is manifested by the thickening and prominence of Schwalbe's line. (2) Abnormal iridocorneal angle: its main feature is that ...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 陈鹏谢立信孙大鹏李素霞张阳阳
Owner SHANDONG EYE INST
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