Reagent case for detecting 281C >T mutation of large vestibular aqueduct related gene SLC26A4

Abstract

The invention relates to a detecting method, which detects whether the SLC26A4 genetic mutation exists in the individual sample to be detected, and diagnoses the generation and the type of the large vestibular aqueduct in the individual to be detected; wherein, the SLC26A4 genetic mutation is 281C being larger than T heterozygous mutation on the exon 3 of SLC26A4 gene. The invention further relates to a reagent kit for detecting whether the SLC26A4 genetic mutation exists in the individual sample to be detected, and the application of the SLC26A4 gene in diagnosing and / or treating the large vestibular aqueduct related diseases. The genetic mutation and detecting method are favorable for the screening the SLC26A4 genetic mutation in the deaf people, and diagnose and treat the deaf people.

Description

A kit for detecting the 281C>T mutation of the vestibular aqueduct enlargement-related gene SLC26A4 This application is a divisional application of Chinese patent application 200510132214.5. technical field The invention relates to a kit for detecting SLC26A4 mutation gene. Background technique The SLC26A4 gene is located at 7q31, which was originally located by Everett et al., and found that the mutation of this gene can lead to an autosomal recessive genetic disease: Pendred syndrome, clinical manifestations of goitre, and combined vestibular aqueduct enlargement or Mondini malformation ( Enlarged vestibular aqueduct combined with cochlear hypoplasia) sensorineural deafness. Later, Usami et al. screened the SLC26A4 gene in 6 families with simple vestibular aqueduct enlargement and showed that the mutation of this gene can also lead to simple vestibular aqueduct enlargement, and its inheritance mode is also recessive. Thus, mutations in the SLC26A4 gene can lead to ...

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And due to toxic mechanisms of altered osmotic pressure and altered composition lead to altered membrane labyrinth structure

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