37 results about "Vestibular aqueduct" patented technology

The invention provides a method and a kit for detecting mutation of PDS gene 2168A>G by using fluorescence PCR technology. The method comprises: aiming at a PDS 2168A>G mutation site, designing a specific mutation type probe and a wild type probe and respectively marking with different colors, designing amplimers at two sides of the mutation site; and performing amplification on a to-be detected sample by using a PCR reaction system containing the wild type probe, the mutation type probe and the amplimers, and comparing the fluorescence curve mode with that of a quality-control sample to determine whether the sample has PDS gene 2168A>G mutation. The method and the kit can provide clinical reference for disease cause diagnosis of deaf patient, especially deaf patients with enlarge vestibular aqueduct syndrome, also can be used to screen whether newborns and couples in pregnancy are carriers, and provides help for deaf antenatal diagnosis and newborn congenital deaf cause diagnosis. The kit has the characteristics of closed-tube high-flux automatic operation and analysis, and is especially usable in clinic laboratories.

The invention discloses gene combinations, a primer, a probe and applications thereof for determining PDS gene mutation of large vestibular aqueduct syndrome deafness. The gene combinations comprise combinations of the following five mutant sites of PDS genes: IVS7-2A>G, A2168G (H723R), L236P, IVS8 +1 G>A and T416P which are respectively corresponding to the following SNP (single nucleotide polymorphism) sites: the rs111033313 site, the rs121908362 site, the rs80338848 site, the rs80338849 site and the rs28939086 site. According to the applications disclosed by the invention, a group of genes and sites related to the susceptibility of large vestibular aqueduct syndrome deafness are detected, and whether the subject population carry susceptible genes of large vestibular aqueduct syndrome deafness can be detected and analyzed comprehensively by using a specific primer and a specific probe by a mononucleotide extension technology combined with a microarray chip technology, thereby screening out susceptible population of large vestibular aqueduct syndrome deafness from the subject population, and achieving the purposes of rapid diagnosis and treatment.

The invention discloses a kit for mutation detection of a pathogenic gene SLC26A4 of a vestibular aqueduct enlargement/Pendred syndrome. The kit includes a reagent for extracting DNA from a sample tobe tested, a PCR reaction reagent for amplifying the sample DNA, and a reagent for sequencing a PCR amplification product, wherein the PCR reaction reagent for amplifying the sample DNA includes a PCRprimer. The kit disclosed by the invention is used to detect whether a patient has SLC26A4 gene c.421T>A mutation, thereby diagnosing the causes of the generation of the vestibular aqueduct enlargement/Pendred syndrome; the kit is beneficial for carrying out SLC26A4 mutation screening work of patients with the vestibular aqueduct enlargement/Pendred syndrome clinically; a basis is provided for the diagnosis of the patients with the vestibular aqueduct enlargement/Pendred syndrome.

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.

The invention belongs to the field of gene detection and relates to multiplex PCR specific primers, kit and method for detecting causative genes of large vestibular aqueduct syndrome based on a high throughput sequencing technique. The invention discloses the multiplex PCR specific primers which are used for detecting causative genes of large vestibular aqueduct syndrome and are shown in formulas of SEQ ID NO: 1 to SEQ ID NO: 86, the kit containing the primers and the detection method for capturing and amplifying the causative gene of large vestibular aqueduct syndrome through a one-step PCR amplification reaction through the primers or kit. The multiplex PCR specific primers, kit and detection method can realizes simultaneous detection of multiple causative genes of large vestibular aqueduct syndrome of multiple samples, effectively improve the detection efficiency and accuracy, reduce a cost and simplify operation processes.

The invention relates to a detection method, by which occurrence and type of vestibular aqueduct enlargement of individuals under test are diagnosed by detecting whether SLC26A4 genetic mutation exists in a specimen from individuals under test, wherein the SLC26A4 genetic mutation is a 349delC heterozygous mutation located at SLC26A4 exon 4. The invention also relates to a detection kit for detecting whether SLC26A4 genetic mutation exists in a specimen from individuals under test, and the application of SLC26A4 genetic mutation to diagnosis and/or therapy of diseases related to vestibular aqueduct enlargement. The genetic mutation and detection method are helpful to clinical screen of SLC26A4 genetic mutation of deafness patients, and provide service for diagnosis and therapy of the deafness patients.

The present invention relates to a test method, which diagnoses the incidence and type of the large vestibular aqueduct disease of an individual to be tested by detecting whether SLC26A4 genetic mutation exists in the sample from the individual to be tested, wherein the SLC26A4 gene mutation is a 227C > T heterozygous mutation located on the SLC26A4 gene exon. The invention further relates to a test reagent kit for detecting whether SLC26A4 gene mutation exists in the sample from the individual to be tested, and application of the SLC26A4 gene mutation in diagnosis and/or curing diseases related to large vestibular aqueduct. The gene mutation and test method are helpful to develop gene mutation selection of deafness patients, thus providing services for diagnosis and cure of deafness patients.

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 589G being larger than A heterozygous mutation on the exon 5 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.

The invention relates to a detection method, by which occurrence and type of vestibular aqueduct enlargement of individuals under test are diagnosed by detecting whether SLC26A4 genetic mutation exists in a specimen from individuals under test, wherein the SLC26A4 genetic mutation is a 916_917insG heterozygous mutation located at SLC26A4 exon 7. The invention also relates to a detection kit for detecting whether SLC26A4 genetic mutation exists in a specimen from individuals under test, and the application of SLC26A4 genetic mutation to diagnosis and/or therapy of diseases related to vestibular aqueduct enlargement. The genetic mutation and detection method are helpful to clinical screen of SLC26A4 genetic mutation of deafness patients, and provide service for diagnosis and therapy of the deafness patients.

The invention relates to a detection method, by which occurrence and type of vestibular aqueduct enlargement of individuals under test are diagnosed by detecting whether SLC26A4 genetic mutation exists in a specimen from individuals under test, wherein the SLC26A4 genetic mutation is a 1673A>T heterozygous mutation located at SLC26A4 exon 15. The invention also relates to a detection kit for detecting whether SLC26A4 genetic mutation exists in a specimen from individuals under test, and the application of SLC26A4 genetic mutation to diagnosis and/or therapy of diseases related to vestibular aqueduct enlargement. The genetic mutation and detection method are helpful to clinical screen of SLC26A4 genetic mutation of deafness patients, and provide service for diagnosis and therapy of the deafness patients.

The invention relates to a detection method, by which occurrence and type of vestibular aqueduct enlargement of individuals under test are diagnosed by detecting whether SLC26A4 genetic mutation exists in a specimen from individuals under test, wherein the SLC26A4 genetic mutation is a 230A>T heterozygous mutation located at SLC26A4 exon 3. The invention also relates to a detection kit for detecting whether SLC26A4 genetic mutation exists in a specimen from individuals under test, and the application of SLC26A4 genetic mutation to diagnosis and/or therapy of diseases related to vestibular aqueduct enlargement. The genetic mutation and detection method are helpful to clinical screen of SLC26A4 genetic mutation of deafness patients, and provide service for diagnosis and therapy of the deafness patients.

The invention relates to a detection method, by which occurrence and type of vestibular aqueduct enlargement of individuals under test are diagnosed by detecting whether SLC26A4 genetic mutation exists in a specimen from individuals under test, wherein the SLC26A4 genetic mutation is a 1343C>T heterozygous mutation located at SLC26A4 exon 12. The invention also relates to a detection kit for detecting whether SLC26A4 genetic mutation exists in a specimen from individuals under test, and the application of SLC26A4 genetic mutation to diagnosis and/or therapy of diseases related to vestibular aqueduct enlargement. The genetic mutation and detection method are helpful to clinical screen of SLC26A4 genetic mutation of deafness patients, and provide service for diagnosis and therapy of the deafness patients.

The invention relates to a detection method, by which occurrence and type of vestibular aqueduct enlargement of individuals under test are diagnosed by detecting whether SLC26A4 genetic mutation exists in a specimen from individuals under test, wherein the SLC26A4 genetic mutation is a 1336C>T heterozygous mutation located at SLC26A4 exon 11. The invention also relates to a detection kit for detecting whether SLC26A4 genetic mutation exists in a specimen from individuals under test, and the application of SLC26A4 genetic mutation to diagnosis and/or therapy of diseases related to vestibular aqueduct enlargement. The genetic mutation and detection method are helpful to clinical screen of SLC26A4 genetic mutation of deafness patients, and provide service for diagnosis and therapy of the deafness patients.

The invention relates to a detection method. In the method, whether SLC26A4 gene mutation exists in a sample from an individual to be detected is detected to diagnose on occurrence and type of a large vestibular aqueduct disease in the individual to be detected, the SLC26A4 gene mutation is 387delC heterozygous mutation located at an SLC26A4 gene exon 4. The invention also relates to a detection kit used for detecting whether SLC26A4 gene mutation exists in the sample from the individual to be detected and application of SLC26A4 gene mutation in diagnosis and/or treatment of diseases related to large vestibular aqueduct. The gene mutation and detection method are beneficial to clinically carrying out screening of SLC26A4 gene mutation of people suffering from deafness, thus providing service for diagnosis and treatment of the people suffering from deafness.