63 results about "Autosomal dominant transmission" patented technology

The present invention provides in certain embodiments a method of treating autosomal dominant non-syndromic hearing loss (ADNSHL) in a patient in need thereof comprising: (a) identifying a mutation in an ADNSHL-causing gene, (b) preparing a ADNSHL therapeutic miRNA, and (c) administering to the patient a pharmaceutical composition comprising the ADNSHL therapeutic miRNA and a pharmaceutically acceptable carrier.

The present invention discloses a non-human animal model for a hereditary autosomal dominant disease. The non-human animal model expresses at least one phenotype associated with the disease and is obtained by a genetic determinant. The invention also relates to sperm cells and embryos comprising the genetic determinant for an autosomal dominant disease. Furthermore, methods for producing the non-human animal model, sperm cell, and embryos are disclosed.

The invention relates to a gene mutant and application thereof, in particular to application of a reagent for detecting a mutation site for preparing and screening out a biological sample easily infected with nonsyndromic autosomal dominant hereditary hearing loss, separated encoded IFNLR1 mutant nucleic acid, separated polypeptide, a system for screening out the biological sample easily infectedwith nonsyndromic autosomal dominant hereditary hearing loss, and a reagent kit, a construction body and reconstitution cells for screening out the biological sample with the nonsyndromic autosomal dominant hereditary hearing loss. Compared with a wild IFNLR1 gene, the separated encoded IFNLR1 mutant nucleic acid has c.296G>A mutation. By detecting whether or not the novel mutant exists in the biological sample, whether or not the biological sample is easily infected with the ADNSHL syndrome can be effectively detected.

The present invention provides compounds of Formula (I) or (II), which are thought to be able to inhibit mTOR (mammalian target of rapamycin) signaling pathway, induce UPR (unfolded protein response), and / or perturb mitochondrial function of a cyst cell (e.g., a cyst cell causing polycystic kidney disease (PKD, e.g., autosomal dominant PKD (ADPKD) or autosomal recessive PKD (ARPKD)) or polycystic liver disease (PLD, e.g., autosomal dominant PLD (ADPLD) or autosomal recessive PLD (ARPLD)). The invention also provides pharmaceutical compositions, kits, and methods involving the compounds described herein for use in treating PKD or PLD, inhibiting the growth of a cyst cell, and / or killing a cyst cell.

The autosomal dominant spinocerebellar ataxias (SCAs) represent a growing and heterogeneous clinical phenotype with ongoing discovery of causative etiologies. Methods: The authors collected DNA and clinically characterized a three-generation Filipino family segregating a dominant ataxia. Following elimination of several known SCA loci, a genome-wide linkage study was undertaken with additional fine mapping of 19q13. Results: Clinical characterization of affected family members revealed cerebellar signs including gait ataxia, limb ataxia / dysmetria, titubation, hypotonia, dysarthria, and nystagmus. Linkage was found in a ˜4 cM region of 19q13 bounded by markers D19S867 and D19S553, with a maximum LOD score of 3.89 at markers D19S904, D19S246, and D19S907. This region overlaps with, though markedly reduces the previously described SCA13 locus. Conclusion: An autosomal dominant cerebellar ataxia clinically distinguishable from SCA13 overlaps with the SCA13 locus on chromosome 19q13.3.

The reagent composition for detecting the autosomal dominant polycystic kidney disease comprises a primer group, a first reagent for extracting genomic DNA from a sample; the second reagent is used for carrying out long fragment PCR reaction by using the primer group; a third agent for processing the amplification product such that the amplification product can be used in a high-throughput sequencing technique; and the fourth reagent is used for performing high-throughput sequencing on the treated amplification product. Comprising the following steps: S1, amplifying a PKD1 gene by using a reagent composition according to any one of claims 1-7 through long-fragment PCR (Polymerase Chain Reaction); s2, performing high-throughput sequencing on the amplified sequence obtained in the step (1); s3, comparing the sequencing result obtained in the step (2) with a PKD1 gene reference sequence, and determining a mutation site; s4, eliminating false gene locus interference through bioinformatics analysis, and determining a PKD1 true gene mutation locus; and S5, comparing the true gene mutation site determined in the step S4 with a known PKD1 gene mutation site, and determining a new mutation site on the PKD1 gene.

The present disclosure provides methods for treating autosomal dominant diseases in a subject. In some aspects, the methods involve the use of a gene editing enzyme with a pair of unique guide RNA sequences that targets both mutant and wildtype forms of autosomal dominant disease-related gene for destruction in cells, and then supplying the cells with wildtype autosomal dominant disease-related gene cDNA which is codon modified to evade recognition by the guide RNAs. These methods are broadly applicable to any autosomal dominant disease.