Mutation detection kit for vestibular aqueduct enlargement/Pendred syndrome virulence gene SLC26A4

Abstract

The invention discloses a mutation detection kit for a vestibular aqueduct enlargement / Pendred syndrome virulence gene SLC26A4. The kit comprises a reagent used for extracting DNA from a to-be-detected sample, a PCR reaction reagent used for amplifying the DNA of the sample, and a reagent used for sequencing a PCR amplification product, wherein the PCR reaction reagent used for amplifying the DNAof the sample comprises a PCR primer. The kit provided by the invention is used for detecting whether a patient has the c.2073 dupT mutation of the SLC26A4 gene or not, so the cause of the vestibularaqueduct enlargement / Pendred syndrome is diagnosed; the kit is beneficial to clinically carrying out SLC26A4 mutation screening work on patients with the vestibular aqueduct enlargement / Pendred syndrome, and provides a basis for 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 SLC26A4 gene mutation site c.2073dupT (p.A693Cfs*7) used in 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, Campbell found SL...

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Problems solved by technology

[0006] Chinese patents CN109355374A, CN109536602A, and CN109680057A have disclosed kits for detecting mutations of the SLC26A4 gene c.368C>T, c.1656T>G, c.85G>A, 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.2073dupT site (located in exon 18)

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