Reagent kit for detecting 1175A>G mutation of large vestibular aqueduct related gene SLC26A4

Abstract

The invention relates to a detection method, whether a sample from an individual to be tested has the SLC26A4 gene mutation or not is detected, so as to diagnose the occurrence and the type of the large vestibular aqueduct of the individual to be tested, wherein, the SLC26A4 gene mutation is the heterozygous mutation of 1175A which is larger than G of a gene exon 10 which is positioned at SLC26A4. The invention also relates to a detection kit for detecting whether the sample from the individual to be tested has the SLC26A4 gene mutation and an application of the SLC26A4 gene mutation in the diagnosis and / or the treatment of the diseases which are related to the large vestibular aqueduct. The gene mutation and the detection method can be beneficial to the clinical development of the SLC26A4 gene mutation screening work of the deaf patients, thus providing the services for the diagnosis and the treatment of the deaf patients.

Description

Kit for detecting the 1175A>G 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, showing that the mutation of this gene can also lead to simple vestibular aqueduct enlargement, and its genetic mode is also recessive inheritance. It can be seen that the SLC26A4 gene mutatio...

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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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