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SNP locus for detecting infantile epilepsy type 42 with congenital cataract, primer pair and kit

A technology for congenital cataracts and epilepsy, which is applied in the fields of biochemical equipment and methods, recombinant DNA technology, and the determination/examination of microorganisms, which can solve problems such as limited understanding of disease-causing genes.

Inactive Publication Date: 2019-04-16
SHANDONG EYE INST
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

So far, the knowledge of the causative genes of early-onset infantile epileptic encephalopathy is still limited, and the genes known so far can only explain the onset of a small proportion of patients

Method used

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  • SNP locus for detecting infantile epilepsy type 42 with congenital cataract, primer pair and kit
  • SNP locus for detecting infantile epilepsy type 42 with congenital cataract, primer pair and kit
  • SNP locus for detecting infantile epilepsy type 42 with congenital cataract, primer pair and kit

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0039] Screening the mutation site of CACNA1A gene from a family with infantile epileptic encephalopathy type 42 and congenital cataract

[0040] 1. Extraction of genomic DNA from peripheral blood:

[0041] In compliance with the relevant national policies and regulations, and on the basis of the consent of the sampling subjects, 2-5ml of peripheral venous blood from family members was drawn, put into EDTA anticoagulant tubes, and stored at -80°C for later use; the frozen EDTA anticoagulated blood was thawed at room temperature Finally, take 500 μL and put it in a centrifuge tube, add an equal volume of TE (pH 8.0), mix well, centrifuge at 10000 rpm for 10 minutes at 4°C, and discard the supernatant.

[0042] Add 180 μLTE, 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 react...

Embodiment 2

[0060] Screening the SNP site of CACNA1A gene from another two patients with early-onset infantile epileptic encephalopathy and cataract

[0061] 1. Collect patients with premature infantile epileptic encephalopathy and cataract: collect and diagnose patients with onset infantile epileptic encephalopathy and cataract in Shandong Eye Institute and Qingdao Eye Hospital.

[0062] 2. Extraction of genomic DNA from peripheral blood: extract 2-5ml of peripheral venous blood from patients with epileptic infantile encephalopathy and cataract, put them into EDTA anticoagulant tubes, and store them at -80°C for later use; the frozen EDTA anticoagulant blood should be stored at room temperature After melting, take 500 μL and put it in a centrifuge tube, and use the conventional phenol-chloroform method described in Example 1 to extract genomic DNA from peripheral blood.

[0063] 3. PCR amplification target fragment: reaction conditions and reaction system:

[0064] (1) PCR reaction cond...

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Abstract

The invention provides an SNP locus for detecting infantile epilepsy type 42 with congenital cataract, belonging to the technical field of gene detection. The SNP locus is located at the 6747th position of a CACNA1A gene coding region from a start codon. A G / C mutation occurs in the SNP locus; when the genotype of the SNP locus is GC or CC, it is manifested as a latent epilepsy type 42 with congenital cataract; when the genotype of the SNP locus is GG, the performance is normal. A primer pair and a kit provided can quickly and accurately detect whether the above SNP locus mutation exists in aCACNA1A gene, and a basis is provided for detecting whether a subject has the risk of epilepsy encephalopathy in the early onset infant.

Description

technical field [0001] The invention belongs to the technical field of gene detection, and in particular relates to a SNP site, a primer pair and a kit for detecting infantile epileptic encephalopathy type 42 with congenital cataract. Background technique [0002] Early infantile epileptic encephalopathy, also known as Ohtahara syndrome, is a malignant epilepsy. Treatment-resistant epilepsy with onset in infancy can lead to severe cognitive and behavioral impairment due to frequent seizures or interictal epileptiform discharges. The symptoms of this disease are characterized by an early age of onset, a burst-suppressive pattern in the EEG, uncontrollable convulsions, poor prognosis, and can be transformed into infantile spasms. The main clinical manifestations are abnormal clinical eye movements, strabismus, esotropia, nystagmus, contractures, hypotonia, hypertonia, epileptic encephalopathy, multiple types of seizures, developmental delay, moderate to severe intellectual di...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 赵晓雯王亚尼吴洁单晓娜夏甜代云海荆丽丽
Owner SHANDONG EYE INST
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