Kit for LVA (Large Vestibular Agueduct)/Pendred syndrome virulence gene SLC26a4 mutation detection

Abstract

The invention discloses a kit for LVA (Large Vestibular Agueduct) / Pendred syndrome virulence gene SLC26a4 mutation detection. The kit is prepared from a reagent which is used for extracting DNA (Deoxyribonucleic Acid) from a to-be-detected sample, a PCR (Polymerase Chain Reaction) reagent which is used for amplifying the DNA of a sample and a reagent for sequencing a PCR amplification product, wherein the PCR reagent for amplifying the DNA of the sample comprises a PCR primer. The kit disclosed by the invention is used for detecting whether SLC26A4 gene c.85G>A exists in a patient or not, so that the reason causing the LVA / Pendred syndrome can be diagnosed; the kit will be beneficial for clinically developing SLV26A4 mutation detection work on the patient suffering from the LVA / Pendred syndrome, and basis is provided for diagnosis on the patient suffering from the LVA / 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.85G>A (p.Glu29Lys) 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...

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 particularly important to find the unique mutation sites of different regions and races, but At present, there is still a lack of such reports on the SLC26A4 gene mutation site for specific races

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