Detection kit for pathogenic gene CHD7 mutation of CHARGE syndrome

A kit and genetic technology, applied in the field of genetic testing, to reduce the birth rate and reduce the burden

Pending Publication Date: 2019-07-19
FOURTH MILITARY MEDICAL UNIVERSITY
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

There is no report on the c.3523-2A>G mutation of the CHD7 gene

Method used

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  • Detection kit for pathogenic gene CHD7 mutation of CHARGE syndrome
  • Detection kit for pathogenic gene CHD7 mutation of CHARGE syndrome
  • Detection kit for pathogenic gene CHD7 mutation of CHARGE syndrome

Examples

Experimental program
Comparison scheme
Effect test

example 1

[0043] Collect all kinds of sensorineural deafness patients through the deaf clinic and resource collection network, and establish a resource library. On the premise that the patient is voluntary, after signing the informed consent, blood samples are collected, and an outpatient medical record database is established to record the patient's condition, family history and contact information in detail. Then, the genomic DNA was extracted by protease degradation, quantified and stored at -20°C. Each DNA sample corresponds to the registered patient's clinical data in detail. Then, use the online primer design software Primer5.0 to design primers (primer amplified target sequence contains exon 15 cut position of human CHD7 gene, primer design reference Gene ID: 55636, amplified target fragment size is 702bp), with genome DNA was used as a template, and PCR amplification was performed on a BIORAD MyCycle thermal cycler. Direct sequencing of PCR amplification products: the sequencin...

example 2

[0149] Amplification primers (design completed in September 2018) are as follows, and others are the same as Example 1 (the target sequence amplified by the following primers includes the cut position of exon 15 of the human CHD7 gene, and the primer design refers to Gene ID: 55636):

[0150] Upstream primer CHD7-F-2: 5'-CCCTCTTCTCTATCTTCCCTATG-3',

[0151] Downstream primer CHD7-R-2: 5'-GGACAGGAGACAGGAATGACTATA-3'.

[0152] The Fourth Military Medical University of the Chinese People's Liberation Army

[0153] CHARGE syndrome pathogenic gene CHD7 mutation detection kit

[0154] 4

[0155] 1

[0156] 23

[0157] DNA

[0158] Synthetic

[0159] 1

[0160] cattgtcttg tccctcttct cta 23

[0161] 2

[0162] 23

[0163] DNA

[0164] Synthetic

[0165] 2

[0166] ggagacagga atgactatac acc 23

[0167] 3

[0168] 23

[0169]DNA

[0170] Synthetic

[0171] 3

[0172] ccctcttctc tatcttccct atg 23

[0173] 4

[0174] 24

[0175] DNA

[0176] Synthe...

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Abstract

The invention discloses a detection kit for a pathogenic gene CHD7 mutation of the CHARGE syndrome. The kit comprises a reagent for extracting DNA from a to-be-detected sample, a PCR reaction reagentfor amplifying the sample DNA, and a reagent for sequencing a PCR amplified product, wherein the PCR reaction reagent for amplifying the sample DNA comprises a PCR primer. The kit is used for detecting whether a patient has mutation of NM_017780:c.3523-2A>G of a CHD7 gene or not, and the cause of CHARGE syndrome occurrence can be diagnosed. The kit is favorable to clinically performing CHD7 mutation screening operation of patients with CHARGE syndrome, and accordance is provided to diagnosis for patients with the CHARGE syndrome.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a CHD7 gene single mutation site c.3523-2A>G typing detection kit used in clinical diagnosis of CHARGE syndrome. Background technique [0002] CHARGE syndrome is a rare multiorgan congenital defect with a high degree of diversity in presentation. The diagnosis of CHARGE syndrome is mainly based on clinical symptoms, which was first proposed by Blake et al. and later revised by Verloes. The main criteria include 1. eye deformity; 2. choanal atresia; 3. semicircular canal dysplasia. Secondary criteria include 1. Cranial nerve and brainstem lesions; 2. Hypothalamic-pituitary dysfunction; 3. Ear deformity and hearing impairment; 4. Mediastinal dysplasia; 5. Mental retardation. With the above 3 main symptoms, or 2 main symptoms and 2 secondary symptoms, it is typical CHARGE syndrome; with 2 main symptoms and 1 secondary symptom, it is partial type; with 2 main symptoms, or 1 One ma...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 查定军王淑娟林颖温立婷陈俊周敏韩宇董晨梁鹏飞李琼安晓刚邱建华
Owner FOURTH MILITARY MEDICAL UNIVERSITY
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