A gene chip for epileptic encephalopathy and its application

A gene chip and epileptic encephalopathy technology, applied in the field of genetic disease detection, can solve the problems of a large amount of sequencing data, the depth of sequencing cannot be too deep, and the high cost of sequencing, and achieve the effect of saving sequencing data and balancing cost performance

Active Publication Date: 2019-05-14
XIANGYA HOSPITAL CENT SOUTH UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
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AI Technical Summary

Problems solved by technology

[0006] Whole genome sequencing needs to generate a large amount of sequencing data, and the cost of sequencing is high, so the sequencing depth cannot be too deep

Method used

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  • A gene chip for epileptic encephalopathy and its application
  • A gene chip for epileptic encephalopathy and its application
  • A gene chip for epileptic encephalopathy and its application

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Experimental program
Comparison scheme
Effect test

Embodiment

[0049] The gene chip of the present invention was tested by using the Affymetrix HG U133A chip platform to detect the gene expression of 684 patients and 700 normal control samples. Gene chip design and testing were performed by Aiji Taikang (Beijing) Biotechnology Co., Ltd.

[0050] Step 1: Extraction of RNA.

[0051] According to the instructions provided by the manufacturer, total RNA was extracted from peripheral venous blood of 800 patients and 800 normal people using QIAGEN’s RNeasy Total RNA Isolation kit; mRNA was extracted from total RNA using QIAGEN’s Oligotex Direct mRNA kit.

[0052] Step 2: RNA precipitation.

[0053] It is not necessary to precipitate total RNA after isolation or washing with QIAGEN’s RNeasy Total RNA Isolation kit. Adjust the elution volume to prepare cDNA synthesis close to the desired RNA concentration. Most Poly(A) + The mRNA isolation process will result in a relatively dilute RNA, so it is necessary to concentrate the mRNA before cDNA s...

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Abstract

The invention discloses a gene chip for epileptic encephalopathy. The gene chip comprises probes used for the following genes: ABCC8, NOTCH3, SCN1A, GCK, TSC2, GALNS, NPC1, MECP2 and NF1. In an implementation scheme, the sequences of the probes are SEQ ID No. 1-79. The gene chip provided by the invention can realize the gene detection for the epileptic encephalopathy.

Description

technical field [0001] The invention belongs to the field of genetic disease detection, in particular to the detection of epileptic encephalopathy, in particular to an epileptic encephalopathy gene chip and its application. Background technique [0002] Early epileptic encephalopathy refers to persistent epileptic activity (including clinically frequent epileptic seizures and continuous epileptic discharges in the EEG between seizures) in the neonatal period or infancy, which leads to cognitive and motor developmental delays and mental retardation. Low, catastrophic neurological sequelae like autism. Due to the complex etiology and unknown pathogenesis, doctors change medicines blindly, and patients seek medical treatment everywhere. How to clarify the etiology of these children, identify early warning signs of disease, and provide precise treatment has also become a thorny problem that plagues clinicians, and is an important clinical issue that needs to be solved urgently....

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C40B40/06C12Q1/6883
CPCC12Q1/6827C12Q1/6834C12Q1/6883C12Q2600/156C40B40/06C12Q2565/501
Inventor 尹飞彭镜邓小鹿何芳陈晨盖楠王颖马玉平张文彭盼
Owner XIANGYA HOSPITAL CENT SOUTH UNIV
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