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Kit for mutation detection of pathogenic gene SLC26A4 of vestibular aqueduct enlargement/Pendred syndrome

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

Pending Publication Date: 2019-08-27
FOURTH MILITARY MEDICAL UNIVERSITY
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0006] Chinese patents CN109355374A, CN109536602A, and CN109680057A have disclosed kits for detecting SLC26A4 gene c.368C>T, c.1656T>G, c.85G>A mutations, but due to the independence of different sites (c.368C> T, c.1656T>G, c.85G>A are located on exons 4, 15, and 2 of the SLC26A4 gene respectively, and there is no linkage relationship) and the genetic heterogeneity of patients with vestibular aqueduct enlargement, the above reagents should be used The cassette cannot yet detect the c.421T>A site

Method used

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  • Kit for mutation detection of pathogenic gene SLC26A4 of vestibular aqueduct enlargement/Pendred syndrome
  • Kit for mutation detection of pathogenic gene SLC26A4 of vestibular aqueduct enlargement/Pendred syndrome
  • Kit for mutation detection of pathogenic gene SLC26A4 of vestibular aqueduct enlargement/Pendred syndrome

Examples

Experimental program
Comparison scheme
Effect test

example 1

[0047] 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, use the online primer design software Primer3 to design primers (the amplified target fragment includes exon 5 at position 421 and its flanking sequences), use genomic DNA as a template, PCR amplify the target fragment, and sequence. The sequencing primers were the same as the PCR amplification primers, and were sequenced in the forward and reverse directions using the 3730 DNA sequencer from A...

example 2

[0154] Amplification primers (design completed in January 2018) are as follows, others are the same as Example 1:

[0155] SLC26A4-F2:5'-ACCCTATGCAGACACATTGA-3';

[0156] SLC26A4-R2: 5'-TTTATGTGGCTTTCGGTCCT-3'.

[0157] The Fourth Military Medical University of the Chinese People's Liberation Army

[0158] A test kit for detection of SLC26A4 mutation in the vestibular aqueduct enlargement / Pendred syndrome pathogenic gene

[0159] 4

[0160] 1

[0161] 25

[0162] DNA

[0163] Synthetic

[0164] 1

[0165] cctatgcaga cacattgaac atttg 25

[0166] 2

[0167] 24

[0168] DNA

[0169] Synthetic

[0170] 2

[0171] tgagccttaa taagtggggt cttg 24

[0172] 3

[0173] 20

[0174] DNA

[0175] Synthetic

[0176] 3

[0177] accctatgca gacacattga 20

[0178] 4

[0179] 20

[0180] DNA

[0181] Synthetic

[0182] 4

[0183] tttatgtggc tttcggtcct 20

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Abstract

The invention discloses a kit for mutation detection of a pathogenic gene SLC26A4 of a vestibular aqueduct enlargement / Pendred syndrome. The kit includes a reagent for extracting DNA from a sample tobe tested, a PCR reaction reagent for amplifying the sample DNA, and a reagent for sequencing a PCR amplification product, wherein the PCR reaction reagent for amplifying the sample DNA includes a PCRprimer. The kit disclosed by the invention is used to detect whether a patient has SLC26A4 gene c.421T>A mutation, thereby diagnosing the causes of the generation of the vestibular aqueduct enlargement / Pendred syndrome; the kit is beneficial for carrying out SLC26A4 mutation screening work of patients with the vestibular aqueduct enlargement / Pendred syndrome clinically; a basis is provided for the diagnosis of the patients with the vestibular aqueduct enlargement / Pendred syndrome.

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.421T>A (p.F141I) 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 查定军梁鹏飞李琼陈俊温立婷林颖韩宇王淑娟李薇邱建华
Owner FOURTH MILITARY MEDICAL UNIVERSITY
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