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Application of cryba4 gene in detection of congenital CCMC

A congenital cataract, gene technology, applied in the direction of DNA / RNA fragment, recombinant DNA technology, microorganism determination / inspection, etc., can solve the problem of limited understanding of pathogenic genes and so on

Active Publication Date: 2019-08-06
SHANDONG EYE INST
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  • Abstract
  • Description
  • Claims
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AI Technical Summary

Problems solved by technology

The knowledge of the causative genes of CCMC is still limited, and the genes known so far can only explain the pathogenesis of less than 30% of patients

Method used

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  • Application of cryba4 gene in detection of congenital CCMC
  • Application of cryba4 gene in detection of congenital CCMC
  • Application of cryba4 gene in detection of congenital CCMC

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0017] Example 1: Screening the mutation site of CRYBA4 gene from congenital CCMC family

[0018] 1. Extraction of peripheral blood genomic DNA:

[0019] 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.

[0020] 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 to pellet the sample. Add an equal volume of Tris-saturated phenol (about 300 μL) to the reaction tube, mix thoroughly, centrifuge at 10,000 rpm for 10...

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Abstract

The invention aims at providing application of a CRYBA4 gene in preparing and detecting a congenital cataract-microcornea syndrome diagnosing product. The invention provides a novel purpose of the CRYBA4 gene and further provides an effective way of carrying out congenital CCMC disease gene diagnosis, antenatal gene screening and genetic counseling. An application effect shows that a gene SNP locus and a detecting primer provided by the invention can be effectively applied to quick detection of a CRYBA4 gene mutation site on a clinic patient and fetus villus or amniotic fluid.

Description

technical field [0001] The invention belongs to the technical field of gene diagnosis, and in particular relates to the application of β-crystallin A4 (CRYBA4) gene in detecting congenital cataract-microcorneal syndrome (CCMC). [0002] Background of the invention [0003] Congenital cataract is a common eye disease that causes low vision and blindness in children. The incidence rate is about 0.01% to 0.06%, and about 50% of them are related to genetics. The most common mode of inheritance is autosomal dominant inheritance. Congenital cataract can occur independently, or as a concomitant symptom of ocular or systemic syndromes, among which 12%-18% of congenital cataract patients often have microcorneal symptoms. Cataract-microcornea syndrome (Cataract-microcornea syndrome, CCMC, OMIM 116200) is a congenital dysplasia eye disease, often involving both eyes, manifested as different phenotypes of cataract and corneal transverse diameter less than 10 mm, often accompanied by ante...

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 王君怡王殿强陈鹏孙大鹏
Owner SHANDONG EYE INST
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