8 results about "PKD1" patented technology

Disclosed herein is a method for sequencing a PKD1 gene. The method may comprise amplifying exons 1-46 of the PKD1 gene using long-range PCR to form a plurality of long-range PCR products; and sequencing the plurality of long-range PCR products. Alternatively, the method may comprise amplifying exons 1-33 of the PKD1 gene using long-range PCR to form a plurality of long-range PCR products; amplifying exons 34-46 of the PKD1 gene by target-enrichment PCR to form a plurality of target-enrichment PCR products; and sequencing the plurality of long-range PCR products and the plurality of target-enrichment PCR products. Also disclosed herein are compositions, kits, and systems comprising primers and / or probes for performing the methods recited herein.

The invention discloses application of a calcimimetic agent in preparation of a medicine for treating autosomal dominant polycystic kidney disease. Pax8rtTA is adopted; tetOCre is taken as a starting material; after a Pkd1fl / fl mouse model is treated by a calcimimetic cinacalcet, by inhibiting secretion of parathyroid hormone, abnormal activation of ciliary positioning Pth1r is reduced, the progress of the polycystic kidney disease is delayed, and the medicine can remarkably delay cyst growth, improve related indexes of renal functions and has a significant clinical application prospect. The abnormal proliferation of cyst epithelial cells and the interstitial fibrosis process of the kidney are effectively inhibited.

Described herein are antisense oligonucleotides, vectors and related compositions and methods for increasing the expression of PKD1 mRNA and polycystic protein 1 protein and their use for the treatment of autosomal dominant polycystic kidney disease (ADPKD).

This invention relates to a method for constructing a mouse model of autosomal dominant polycystic kidney disease and its applications, particularly to a method for preparing a non-human animal model carrying a nonsense mutation in the Pkd1 gene c.616_618GAG>TAG based on CRISPR / Cas9 gene editing technology. The method involves co-injecting mouse zygotes with gRNA targeting exon 5 of the Pkd1 gene, homologous recombinant donor oligonucleotides containing the c.616_618GAG>TAG mutation, and Cas9 nuclease. Mutant mice are obtained via embryo transfer. The mutation site is verified by PCR combined with sequencing, and a stable mutant line is established through breeding. This invention also includes the application of this model animal as a research tool for autosomal dominant polycystic kidney disease, particularly in the areas of pathogenesis analysis, drug screening, and therapeutic target validation. This model can stably simulate the typical clinical manifestations and pathological features of human autosomal dominant polycystic kidney disease, providing an important tool for basic research and translational medicine of this disease.

The present disclosure provides a method and related compositions for treating autosomal dominant polycystic kidney disease (ADPKD) comprising systemically administering to a subject suffering from ADPKD a conjugate comprising an antisense oligonucleotide that binds to a targeted portion of the 3' untranslated region (UTR) of Polycystic Kidney Disease 1 (PKD1) mRNA and reduces specific binding of a miR-17 family member to the 3' UTR and a cell penetrating peptide (CPP).

The invention relates to the technical field of molecular diagnosis of hereditary nephropathy, and particularly discloses a capture probe group, an amplification primer group and a detection method of related genes of renal cystic diseases. The probe group is used for capturing 42 gene regions closely related to renal cyst, such as ALG8, PKD1, PKD2, GANAB, TSC2 and the like, each probe is 120 bp and is flatly designed along a sense strand, and the density of the probes in a low GC region is increased; the primer group comprises four pairs of long-fragment primers for amplifying first to 34 exon segments of the PKD1 gene, has high specificity, and can effectively distinguish PKD1 from a pseudo gene. An amplification product and original genome DNA are mixed according to a specific ratio to build a library and are subjected to high-throughput sequencing, so that the sequencing coverage and mutation detection rate of the PKD1 are remarkably improved. In 59 clinical samples, the positive detection rate reaches 93.2%, and the method is suitable for screening, diagnosis and genetic typing of renal cystic diseases.

The invention relates to a construction method and application of an autosomal dominant polycystic kidney disease mouse model, in particular to preparation of a Pkd1 gene carrying c.616618GAGgt gene based on a CRISPR / Cas9 gene editing technology. The invention relates to a method for a non-human animal model of TAG nonsense mutation. The construction method comprises the following steps: co-injecting gRNA (guide Ribonucleic Acid), containing c.616618GAGgt, of a No. 5 exon of a targeted Pkd1 gene into a mouse fertilized egg; carrying out embryo transplantation on TAG mutated homologous recombination donor oligonucleotide and Cas9 nuclease to obtain a mutated mouse; a mutation site is verified by combining PCR (Polymerase Chain Reaction) with sequencing, and then a stably inherited mutation line is established by breeding. The invention also comprises application of the model animal as an autosomal dominant polycystic kidney disease research tool, especially application in the fields of pathogenesis analysis, drug screening and therapeutic target verification. The model can stably simulate typical clinical manifestation and pathological characteristics of human autosomal dominant polycystic kidney disease, and provides an important tool for fundamental research and transformation medicine of the disease.

Disclosed herein is a method for sequencing a PKD1 gene. The method may comprise amplifying exons 1-46 of the PKD1 gene using long-range PCR to form a plurality of long-range PCR products; and sequencing the plurality of long-range PCR products. Alternatively, the method may comprise amplifying exons 1-33 of the PKD1 gene using long-range PCR to form a plurality of long-range PCR products; amplifying exons 34-46 of the PKD1 gene by target-enrichment PCR to form a plurality of target-enrichment PCR products; and sequencing the plurality of long-range PCR products and the plurality of target-enrichment PCR products. Also disclosed herein are compositions, kits, and systems comprising primers and / or probes for performing the methods recited herein.