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

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,...

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

Images