77 results about "Slc26a4 gene" patented technology

The invention relates to a hereditable deafness susceptibility gene screen test kit. The kit uses mutation from C to T of 1,494 locus of a 12s rRNA gene, mutation from A to G of 1,555 locus of the 12srRNA gene, mutation from A to G of IVS7(-2) locus of an SLC26A4 gene and C(+ / -) of 235 locus of a GJB2 gene as detecting objects, designs and optimizes a set of specific primers respectively againsteach locus to be tested according to the PCR technical principle of a tetra-primer amplification refractory mutation system, amplifies the whole set of the primers in the same reaction tube, and performs primary multiple PCR amplification and primary gel electrophoresis on the four reaction tubes to obtain gene types of four loci simultaneously.

The invention relates to 86 types of particular mutation type atlases of SLC26A4 gene related to hearing loss in Chinese crowd, 27 types of relative hot-spot mutation type atlases and frequency information thereof, 13 types of hotspot mutation type atlases and frequency information thereof, and 2 types of hottest-spot mutation type atlases and frequency information thereof. 59 SLC26A4 gene mutation types are newly discovered in the Chinese crowd, wherein, 47 mutation types lead to the change of encoded protein amino acid of the SLC26A4 gene or influence genetic transcription and translation, 6 mutation types lead to base change rather than the change of amino acid, and 6 types are intron mutation types of the SLC26A4 gene. The discovery has a vital practical significance in developing an SLC26A4 gene diagnosing chip and a kit, which conform to hereditary features of the Chinese crowd suffering hearing loss.

The invention discloses a Chinese population deaf gene screening kit and an application thereof. The kit comprises PCR (polymerase chain reaction) amplification primers and extension primers as well as a PCR reaction agent, wherein the PCR amplification primers and extension primers are designed by taking mutation of lotus 35, lotus 109, lotuses 176-199, lotus 235, lotuses 299-300 of a GJB2 gene, lotus 1174, lotus 1226, lotus 1229, lotus 1975, lotus 2027, lotus 2162, lotus 2168 and lotus IVS7-2 of an SLC26A4 gene, lotus 1494, lotus 1555, lotus 3243 and lotuses 7444 of a mitochondrial DNA (deoxyribonucleic acid) gene as a detection object; and sequences of the primers are as shown in SEQ ID No.1-SEQ ID No.33; and the PCR reaction reagent comprises polymerase and buffer liquor. The kit disclosed by the invention can be utilized to obtain genotypes of 17 lotuses by one step through simple operation, so that cost is low; and accuracy of detection flux and detection results is greatly improved in comparison with that in the prior art, and therefore, the kit has very good clinical and large-scale application value.

The invention discloses a hybrid membrane strip for diagnosis of NSHI (nonsyndromic hearing impairment). The membrane strip comprises a substrate and mutation detection probes, wherein each mutation detection probe respectively comprises a corresponding NSHI gene mutation locus. The gene mutation locus is at least one of the followings: a cDNA35 locus, cDNA176-191 loca, a cDNA235 locus, and cDNA299-300 loca of a GJB2 gene, a cDNA538 locus of a GJB3 gene, a cDNA1555 locus and a cDNA1494 locus of an mtDNA12srRNA gene, and a cDNA2168 locus and an IVS7-2 locus of an SLC26A4 gene; each mutation detection probe comprises sequences of 15-25 bases, and a central section of a sequence comprises a corresponding mutation base of the NSHI gene. The invention has the advantages of high accuracy and low prices, etc.

The invention provides a SNaPshot kit for detecting polymorphism of deafness genes of 22 sites. Polymorphism sites of detected deafness genes comprise GJB2 gene sites rs80338939, rs80338942, rs80338943, rs111033204, 176_191del16, c.35dupG and 508_511dupAACG; GJB3 genes rs74315318 and rs74315319; SLC26A4 genes rs111033220, rs201562855, rs111033305, rs192366176, rs111033318, rs121908362, rs121908363, rs200455203, rs111033380, rs111033313 and c.281C greater than T; mitochondrion DNA (Deoxyribonucleic Acid) rs267606619 and rs267606617.

The invention relates to a real-time fluorescence quantitative probe and a kit for detecting IVS7-2A>G, which is one of 10 common mutations of an autosomal recessive inheritance large vestibular aqueduct-related deafness gene SLC26A4, wherein the kit comprises the real-time fluorescence quantitative probe. The wild-type probe is positioned at a site of 23403bp-23425bp; the mutant-type probe is positioned is positioned at a site of 23404bp-23425bp. In allusion to the Taqman mutant-type probe and the wild-type probe at mutation points and a pair of primers, the probes are high in specificity, high in sensitivity, and intuitive, accurate and reliable in test results, applicable to mass screening of the common mutation IVS7-2A>G of the autosomal recessive inheritance large vestibular aqueduct-related deafness gene SLC26A4 and rapid diagnosis of a SLC26A4 gene-related large vestibular aqueduct deafness.

The invention discloses a hereditary hearing loss susceptible gene 20 site typing detection kit. The kit comprises PCR amplification primers and single-base extension primers of 1494 C>T and 1555 A>G sites of a mitochondrial gene, 35dleG, 299-300delAT, 235delC, 176-191del19 and 167delT sites of a GJB2 gene, 547G>A and 538C>T sites of a GJB3 gene, and 281C>T, 589G>A, IVS7-2A>G, 1174A>T, 1226G>A, IVS15+5G>A, 1975G>C, 2027T>A, 2162C>T and 2168A>G sites of a SLC26A4 gene. The primers have sequences shown in the formulas of SEQ ID No: 1 to SEQ ID NO: 40. The kit is divided into two groups and is used for amplification and detection of 20 sites so that the accuracy of detection is guaranteed. The kit realizes high efficiency, low cost and high accuracy detection of a hereditary hearing loss susceptible gene type.

The invention discloses a Cpf1 kit for rapid detection of hereditary deafness pathogenic gene SLC26A4 mutation and a detection method thereof. The Cpf1 kit comprises a Cpf1 detection system. The Cpf1detection system comprises: a specific crRNA for SLC26A4, a Cpf1 protein and a single-stranded DNA reporting system. The specific crRNA is any one or more designed and synthesized for mutation sites.The single-stranded DNA reporting system comprises an ssDNA FQ reporter for fluorescence detection by an enzyme-labeled instrument and / or an ssDNA DB reporter for immune colloidal gold strip detection. By detecting SLC26A4 gene mutation sites with the Cpf1 for the first time, the kit of the invention has the advantages of high sensitivity, strong specificity, low time consumption, no dependence onlarge-scale experimental equipment and the like.

The invention discloses non-syndromic deafness gene polymorphism detecting primers. The primers mainly include five pairs of specific primers and nine sequencing primers for amplification of deafness genes, GJB2 genes, GJB3 genes, SLC26A4 genes and 12SrRNA genes are included, and ten single nucleotide polymorphisms are involved, namely GJB2 (35DELG, 176-191DEL16, 235DELC, 299-300 DEL AT), GJB3 (538C>T, 547G>A), SLC26A4(2168A>G, IVS7A>G) and mitochondria 12SrRNA (1494C>T, 1555A>G). The invention further discloses a kit comprising the primers. Sensitivity is high, results are visual, judgment is more accurate and quicker, and accurate and quick high-pass non-syndromic deafness gene polymorphism detection can be achieved.

The invention provides a deafness pathogenic gene detection kit utilizing a time-of-flight mass spectrometry. The kit comprises a reagent for detecting at least following 26 mutation sites of 12S rRNA(ribosomal Ribonucleic Acid), GJB2 and SLC26A4 genes: 12S rRNAm.1494-C is greater than T, 12S rRNAm.1555Ais greater thanG, GJB2c.35delG, GJB2c.257C is greater than G, GJB2c.427C is greater than T, GJB2c.176del16, GJB2c.9G is greater than A, GJB2c.235delC, GJB2c.299-300delAT, SLC26A4IVS4+2T is greater than C, SLC26A4c.1673A is greater than T, SLC26A4c.1520delT, SLC26A4c.2027T is greater than A, SLC26A4c.1975G is greater than C, SLC26A4c.1226G is greater than A, SLC26A4c.1318A is greater than T, SLC26A4c.1229C is greater than T, SLC26A4c.281C is greater than T, SLC26A4c.2168A is greater than G,SLC26A4IVS7-2A is greater than G, SLC26A4c.1174A is greater than T, SLC26A4c.235C is greater than T, SLC26A4c.1340delA, SLC26A4_c.589G is greater than A, SLC26A4c.916-917insG and SLC26A4c.IVS15+5G isgreater than A. The kit provided by the invention has the advantages of more mutation detection sites, high throughput, simplicity in operation and short period, high accuracy, high stability and lowcost.

The invention discloses a deafness gene detection kit. The deafness gene detection kit is suitable for detection of a GJB3 gene locus, a GJB2 gene locus, a mitochondrial DNA locus and a SLC26A4 gene locus. The detection kit comprises primers of GF1 to GF9 and GR1 to GR9. The probes comprise sequence probes P1 to P18. Each sequence probe comprises a wild-type probe and a mutant probe. The deafnessgene detection kit realizes non-invasive prenatal detection for pregnant women and early finds deaf children.

The invention provides an SNaPshot kit for detecting multiple deafness gene polymorphisms, and the loci of the detected deafness gene polymorphisms comprise GJB2 gene loci rs80338943, rs111033204 and 508_511dupAACG; SLC26A4 gene loci rs111033318, rs121908362, rs121908363, rs200455203, rs111033380 and rs111033313; and mitochondrial DNA rs267606617.

The invention discloses a kit for one-time qualitative screening of common seven mutational sites of deaf gene of Chinese populations, and a use method thereof. Seven mutational hotspots which comprise delC of a 235th site of GJB2 gene, delAT of 299-300th sites of the GJB2 gene, A-G mutation of a 2168th site of SLC26A4 gene, A-G mutation of an IVS7-2th site of the SLC26A4 gene, A-G mutation of a 1555th site of mitochondrial DNA gene, A-G mutation of a 3243th site of the mitochondrial DNA gene, and A-G mutation of a 7445th site of the mitochondrial DNA gene are treated as detection objects, application primers and extension primers are respectively designed for the mutation of each site, multiple PCR amplification and markup extension are simultaneously carried out on each target site, and genotypes of above seven sites can be obtained at once through capillary electrophoretic analysis. The screening method and the kit of the invention have advantages of convenient use, simple operation, low cost, high flux, and direct and reliable detection result, and are suitable for large scale screening of the deaf gene mutation of the Chinese populations.

The invention provides application of a SNaPshot reagent for detecting polymorphism of deafness genes of 22 sites. Polymorphism sites of detected deafness genes comprise GJB2 gene sites rs80338939, rs80338942, rs80338943, rs111033204, 176_191del16, c.35dupG and 508_511dupAACG; GJB3 genes rs74315318 and rs74315319; SLC26A4 genes rs111033220, rs201562855, rs111033305, rs192366176, rs111033318, rs121908362, rs121908363, rs200455203, rs111033380, rs111033313 and c.281C greater than T; mitochondrion DNA (Deoxyribonucleic Acid) rs267606619 and rs267606617.

The invention provides a kit used for detecting SLC26A4 gene c.665G>T mutation. Through the detections upon whether the mutation gene exists in a patient, occurrence causes and types of enlarged vestibular aqueduct can be diagnosed. The mutation gene and the detection method assist in promoting clinical implementations of SLC26A4 mutation screening of enlarged vestibular aqueduct patients, and in providing a basis for diagnosis and treatments for enlarged vestibular aqueduct patients.

The invention discloses a method for detecting mutation of deafness susceptibility genes through combination of overlapping extension PCR and Sanger sequencing. The method is based on a primer combination which is used for amplifying deafness-relevant mutation sites of GJB2 genes, SLC26A4 genes, mitochondrial DNA and GJB3 genes, wherein the nucleotide sequences of the primer combination are shownin SEQ ID No.1-26. By means of the built detection method, the deafness susceptibility genes are detected through the combination of overlapping extension PCR and Sanger sequencing, only 5 PCR reactions and sequencing reactions are needed, the PCR reaction number and sequencing reaction number are greatly reduced, main 43 mutation sites of the GJB2 genes, SLC26A4 genes, mitochondrial DNA and GJB3genes can be detected, and new mutation sites in amplification fragments can be found. The detection technology has important clinical significance when applied to detecting the mutation of the deafness susceptibility genes, the operation step is simplified, the detection cost is reduced, the detection efficiency is improved, and the method is worthy of wide popularization.

The invention discloses a primer and a probe for screening human deafness multi-gene mutation and an application method thereof, and belongs to the technical field of gene detection. The invention discloses a primer and a probe for screening human deafness GJB2 gene mutation GJB2-M1, GJB-M2 or GJM2-M3, GJB-M4 and GJB2-M5, and an application method thereof, a primer and a probe for screening human deafness GJB3 gene mutation GJB3-M1 or GJB3-M2 and an application method thereof, and primer and a probe for screening human deafness SLC26A4 gene mutation SLC26A4-M1 and SLC26A4-M2 and an application method thereof. By adopting the primer and the probe and the application method thereof provided by the invention, a plurality of samples can be detected in the same polymerase chain reaction (PCR) reaction, and compared with the traditional detection method, the application method has the advantages of being high in accuracy rate, fewer in steps, and less in elapsed time.

The invention provides a kit for detecting SLC26A4 gene mutation and an application of the kit, and belongs to the technical field of gene detection. According to a tetras-primer amplification refractory mutation system-PCR technology, a group of specific primers are designed with respect to the condition that an SLC26A4 gene IVS7 (-2) site is greater than G mutation; a normal outer primer sequence is as shown in SEQ ID NO.1; a mutant outer primer sequence is shown in SEQ ID NO.2; a normal inter primer sequence is as shown in SEQ ID NO 3; and a mutant inter primer sequence is as shown in SEQ ID NO.4. PCR detection is carried out on a to-be-detected sample by virtue of four primers; and the genetype of the SLC26A4 gene in the to-be-detected sample is judged according to the agarose electrophoresis results. The primer disclosed by the invention is good in specificity; the detection method is fast, simple, high in accuracy, and good in sensitivity; and a detection method is provided for the condition that SLC26A4 gene IVS7-2A is greater than G mutation.

The invention relates to the technical field of gene knockout, in particular to a method for knocking out a zebrafish slc26a4 gene. Through a CRISPR / Cas9 gene editing technology, a proper targeting site is designed on a zebrafish slc26a4 gene, and specific sgRNA and Cas9-mRNA are synthesized in vitro for gene editing of zebra fish. The invention can more efficiently and more accurately silence specific genes, is simple to manufacture and low in cost, can simultaneously shear multiple sites on a target gene and silence any number of single genes, and also provides a method for breeding slc26a4gene deletion type zebrafish through gene knockout, a zebrafish model is constructed by the method. The method is helpful for further revealing the whole process of human large vestibular aqueduct syndrome and a molecular mechanism for regulating the process, and has very important significance in understanding the pathology of vestibular aqueduct and researching and developing a new treatment scheme in medicine.

The invention provides an SLC26A4 gene mutant and application thereof. The invention provides a gene mutation. Compared with a wild type SLC26A4 gene, the gene mutation has c.128delG mutation and / or (formula sees the description) mutation. The gene mutation is detectable, and whether a biological sample suffers from non-syndrome deafness can be effectively detected by detecting whether the gene mutation exists in the biological sample. By detecting the gene mutation, detection and research of hereditary hearing loss diseases are expanded and perfected, and a new detection site and a new detection method and way are provided for diagnosis or treatment of the diseases.

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.

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 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 1586T which is larger than G of a gene exon 14 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 theSLC26A4 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.

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 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 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.