Large vestibular aqueduct syndrome/Pendred syndrome infective gene SLC26A4 mutation detection reagent kit

A kit and genetic technology, applied in the field of genetic testing, can solve problems such as lack, and achieve the effect of reducing the burden and reducing the birth rate

Pending Publication Date: 2019-03-29
FOURTH MILITARY MEDICAL UNIVERSITY
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] Due to the variety of SLC26A4 gene mutations, and the obvious diversity among different races, the dominant alleles of different regions and races are different, so it is particula

Method used

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  • Large vestibular aqueduct syndrome/Pendred syndrome infective gene SLC26A4 mutation detection reagent kit
  • Large vestibular aqueduct syndrome/Pendred syndrome infective gene SLC26A4 mutation detection reagent kit
  • Large vestibular aqueduct syndrome/Pendred syndrome infective gene SLC26A4 mutation detection reagent kit

Examples

Experimental program
Comparison scheme
Effect test

example 1

[0046] Collect various sensorineural deafness patients through deaf clinics, and establish a deafness sample resource bank. On the premise of the patient's voluntary consent, after signing the informed consent, 3-5mL blood samples were collected, and an outpatient medical record database was established to record the patient's condition, family history and contact information in detail. Then, use the kit to extract the genomic DNA, put it into the warehouse after quantification, and store it at -20°C. Each DNA sample corresponds to the registered patient's clinical data in detail. Then, the online primer design software Primer3 was used to design primers (including the entire coding region of SLC26A4 and the flanking exon sequence), and the target fragment was amplified by PCR using genomic DNA as a template. Direct sequencing of PCR amplification products: the sequencing primers are the same as the PCR amplification primers, forward and reverse sequencing, using ABI 3730 DNA ...

example 2

[0153] Amplification primers (design completed in March 2018) are as follows, others are the same as Example 1:

[0154] SLC26A4-F2:5'-TGAGCAACTGTGACTTGACT-3';

[0155] SLC26A4-R2: 5'-ATTGCCCTACACAAAGGGAA-3'.

[0156] The Fourth Military Medical University of the Chinese People's Liberation Army

[0157] A detection kit for the mutation of SLC26A4, the causative gene of vestibular aqueduct enlargement / Pendred syndrome

[0158] 4

[0159] 1

[0160] 23

[0161] DNA

[0162] Synthetic

[0163] 1

[0164] agttgagtgc tgctacccag ctc 23

[0165] 2

[0166] 19

[0167] DNA

[0168] Synthetic

[0169] 2

[0170] gcctattcct gattggacc 19

[0171] 3

[0172] 20

[0173] DNA

[0174] Synthetic

[0175] 3

[0176] tgagcaactg tgacttgact 20

[0177] 4

[0178] 20

[0179] DNA

[0180] Synthetic

[0181] 4

[0182] attgccctac acaaagggaa 20

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PUM

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Abstract

The invention discloses a large vestibular aqueduct syndrome/Pendred syndrome infective gene SLC26A4 mutation detection reagent kit. The reagent kit comprises a reagent for extracting DNA from a sample to be tested, a PCR reaction reagent for amplifying a sample DNA, and a reagent for sequencing PCR amplification products, wherein the PCR reaction reagent for amplifying a sample DNA comprise an PCR primer. The reagent kit disclosed by the invention is used for detecting whether patients have SLC26A4 gene c.1656T ) G mutation so as to diagnose the reason of large vestibular aqueduct syndrome/pendred syndromes. The reagent kit is favorable for clinical development of SLC26A4 mutation screening of patients suffering from the large vestibular aqueduct syndrome/pendred syndromes, and provides abasis for diagnose of the patients suffering from large vestibular aqueduct syndrome/pendred syndromes.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a typing detection kit for a single mutation site c.1656T>G (p.S552R) of the SLC26A4 gene used in the clinical diagnosis of vestibular aqueduct enlargement / Pendred syndrome. Background technique [0002] In 1997, Everett first reported that the causative gene of Pendred syndrome was SLC26A4 gene. Pendred syndrome manifests as congenital sensorineural deafness, cochlear malformation (dilated vestibular aqueduct or Mondini malformation) combined with goiter, and its inheritance mode is autosomal recessive. In 1999, Usami conducted full sequence screening of the SLC26A4 gene in 6 families with simple vestibular aqueduct enlargement (no goiter, no Mondini malformation), and found that 4 patients were homozygous or compound heterozygous mutations of the SLC26A4 gene, and believed that the SLC26A4 gene was the same Can result in simple enlargement of the vestibular aqueduct. In 2001,...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 查定军梁鹏飞王淑娟李薇安晓刚陈俊李琼邱建华
Owner FOURTH MILITARY MEDICAL UNIVERSITY
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