38 results about "Non syndromic" patented technology

The present invention provides methods, kits, isolated nucleic acid sequences, antibodies and addressable oligonucleotides microarrays which can be for analyzing sequence alterations and detecting the expression level of CC2D1A or nup62 in cells of an individual and thus diagnose nonsyndromic mental retardation (NSMR) and/or infantile bilateral striatal necrosis (IBSN) in the individual. In addition, the present invention provides methods and pharmaceutical compositions which can be used to treat pathologies associated with mental retardation such as NSMR or IBS.

The present invention provides compositions and methods for the detection and characterization of mutations associated with non-syndromic hearing impairment. More particularly, the present invention provides compositions, methods and kits for using invasive cleavage structure assays (e.g. the INVADER assay) to screen nucleic acid samples, e.g., from patients, for the presence of any one of a collection of mutations in the Connexin 26, or gap junction beta 2, gene associated with non-syndromic hearing loss.

The invention identifies Syngap1 dysfunctions as causative of mental retardation. Described are methods of detecting mental retardation and methods of detecting non-syndromic mental retardation (NSMR) in a human subject. Particular methods comprise sequencing a human subject's genomic DNA for comparison with a control sequence from an unaffected individual. Also described are probes, kits, antibodies and isolated mutated Syngap1 proteins.

The invention belongs to the field of bio-medical technology, and specifically relates to an application of NOTCH3 and JAG2 gene SNP loci, as well as a kit and a detection method thereof. The application of NOTCH3 and JAG2 gene SNP loci in preparation of a detection kit for diagnosing analogous cleft lip and palate susceptibility is disclosed. The invention discovers that SNP locus rs12082 on NOTCH3 gene and two SNP loci (rs741859, rs2238286) on JAG2 gene are correlated with non-syndromic cleft lip and palate for the first time. Therefore, on that basis, a method and a kit for detecting non-syndromic cleft lip and palate susceptible risk through SNP are provided, moreover, clinic experimental study verifies that the detection method is feasible, and the detection kit provided by the invention has better sensitivity, stability and specificity. The detection kit provided by the invention can be used for cleft lip and palate susceptibility screening for normal people, and can effectively play a role in risk early warning and early diagnosis.

The invention discloses a PTPRQ gene mutant and an application thereof, and specifically relates to an isolated PTPRQ-mutant-coding nucleic acid, an isolated polypeptide, and a method, system, and kit for screening a biological sample susceptible to non-syndromic autosomal-recessive hearing loss. Compared with SEQ ID NO:1, the isolated PTPRQ-mutant-coding nucleic acid has c.3125A>G mutation or c.5981A>G mutation. Whether a new mutant exists in the biological sample is detected, and the fact that if the biological sample is susceptible to non-syndromic autosomal-recessive hearing loss can be effectively detected.

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 belongs to the field of genetic engineering and reproductive medicine and discloses an SNP marker related to auxiliary diagnosis of non-syndromic congenital heart disease and an application thereof. The SNP marker is composed of rs3789612, rs4140836, rs13391263, rs13101737, rs1400558, rs6872396, rs13189951, rs9266596, rs7863990, rs2433752, rs7259736, rs490514, rs2474937, rs1531070, rs9533839, rs17019472, rs10182004, rs9461938, rs72759270 and rs1886441. The marker can be used for preparing an auxiliary diagnosis kit of the non-syndromic congenital heart disease.

The invention provides a non-syndromic hearing loss related gene mutant and application thereof, and particularly provides an MYO15A gene mutant and application thereof. Compared with a wild type MYO15A gene, the gene mutant has the c.10419-10423 del CAGCT mutation and/or the c.8791 del T mutation. The gene mutant is detectable, and by detecting whether the gene mutant is present in a biological sample or not, whether a biological sample suffers from non-syndromic hearing loss or not can be effectively detected. Detection and research of the hereditary hearing loss disease are expanded and perfected through discovery of the gene mutant, and a new detection site and a new detection method and way are provided for diagnosis or treatment of the disease.

The patent is a susceptible SNP site of an NTN1 gene and an application thereof and discloses a genotype of an SNP marker rs4791331 related to assisted diagnosis of non-syndromic cleft lip and palate. Two alleles exist: T and C, wherein the allele T is a risk allele and an application of the allele T in a diagnostic kit for non-syndromic cleft lip and palate is developed. The invention is conductive to comprehensively evaluating the effect of heritable variation in genesis and development and lapse of NSCO of Chinese Han populations and has important meaning in guiding NSOC high risk groups to prevent and screen.

The invention discloses a non-syndromic cleft lip and palate genetic risk prediction model, the formula of which is as follows: in the formula, k is the number of SNP sites; Gi represents the number of genetic risk alleles of the ith SNP site, namely 0, 1 and 2; [beta]i represents the weight of the i-th SNP site; SNP is rs139860270, rs1883873, rs139530062, rs144415105, rs55816698, rs139860270, rs6989548 and rs12952376. According to the genetic risk scoring model, the weak effects of the eight SNPs are superposed, so the prediction of the genetic risk of the non-syndromic cleft lip and palate is greatly improved. The invention provides a genetic risk scoring model for the first time to evaluate the risk leaving ability of non-syndromic cleft lip and palate. The model is high in accuracy, and a more comprehensive, accurate and individualized scientific basis can be provided for risk assessment and prevention and control of cleft lip and palate in China.

The invention discloses a non-syndromic autosomal dominant hereditary deafness pathogenic gene KCNQ4 mutation detection kit. The kit comprises a reagent for extracting DNA from a sample to be detected, a PCR reaction reagent for amplifying the sample DNA, and a reagent for sequencing a PCR amplification product; the PCR reaction reagent for amplifying the sample DNA comprises a PCR primer, and theinvented kit is used for detecting whether the c. A857G mutation exists in a patient KCNQ4 gene so as to diagnose the cause of non-syndromic autosomal dominant hereditary deafness. The kit is beneficial to clinically carrying out the KCNQ4 mutation screening work of the non-syndromic autosomal dominant hereditary deafness patients, and provides basis for the diagnosis of the non-syndromic autosomal dominant hereditary deafness patients.

The invention provides an MYO15A gene mutant and an application thereof. The invention provides a gene mutation, and compared with a wild type MYO15A gene, the gene mutation provided by the invention has a c.2802_2812delTCCCACCCAAC mutation and/or a c.5681T>C mutation. The gene mutation is detectable, and whether a biological sample suffers from non-syndromic deafness or not can be effectively detected by detecting whether the gene mutation exists in the biological sample or not. By detecting the gene mutation, the detection and research of the hereditary hearing loss disease are expanded and improved, and a new detection site and a new detection method and approach are provided for the diagnosis or treatment of the disease.

The invention discloses nucleic acid related to non-syndromic hereditary hearing loss, a gene mutant and an application thereof. Compared with a wild type COL4A2 gene, the nucleic acid related to thenon-syndromic hereditary hearing loss has c.4951C>T mutation. The nucleic acid is a new related pathogenic nucleic acid of non-syndromic hereditary hearing loss, and by detecting whether the nucleic acid exists in a biological sample or not, whether the biological sample suffers from the non-syndromic hereditary hearing loss or not can be effectively detected. The discovery of the nucleic acid orpathogenic mutation site further expands and perfects the detection and research of the hereditary hearing loss disease, and provides a new detection site, a new detection method and a new detection way for the diagnosis or treatment of the disease.

The invention relates to the fields of medicine and immunology. In particular, it relates to novel antisense oligonucleotides (AONs) that may be used in the treatment, prevention and/or delay of Usher syndrome type II and/or USH2A-associated non syndromic retina degeneration.

The invention discloses a mutant N4BP2 gene related to non-syndromic cleft lip and palate and application thereof. Compared with an un-mutant N4BP2 Gene with the gene bank accession number of NM_018177.6, the mutant N4BP2 contains respectively contains a non-frameshift deletion mutation site 4: 40133481-40133489delAAGATATTT at a 13 exon, and a missense mutation site 4: 40123905T which is greater than G and a missense mutation site 4: 40122958C which is greater than T at a 9 exon,. The mutant N4BP2 gene can be used for preparing a diagnostic kit for detecting non-syndromic cleft lip andpalate diseases. The discovery of the mutation sites can be used for performing prenatal and postnatal care guidance on family offspring, and can be used as a screening site for carrier screening andprenatal diagnosis screening of the non-syndromic cleft lip and palate diseases for the prenatal and postnatal care guidance of groups.

A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in wildtype form encodes a polypeptide implicated in hereditary sensory defect, wherein said mutated purified polynucleotide presents a mutation responsible for prelingual non-syndromic deafness selected from the group consisting of a specific deletion of at least one nucleotide.