38 results about "PKD1" patented technology

The present invention relates to the polycystic kidney disease 1 (PKD1) gene and its nucleic acid sequence, mutations thereof in patients having PKD1-associated disorders, the protein encoded by the PKD1 gene or its mutants, and their uses in disease diagnosis and therapy.

The invention provides a primer set, a kit and a detection reaction system for detecting PKD1 gene mutation through the long fragment PCR and high-throughput sequencing technology, a non-diagnosis-purpose method for external PKD1 gene mutation detection, a non-diagnosis-purpose method for external PKD1 gene analysis and a method for detecting new mutation sites on the PKD1 gene. According to the method, the primer set is used for carrying out long fragment PCR amplification on the PKD1 gene of a sample, and detecting or analyzing is carried out through high-throughput sequencing. The autosomal dominant genetic polycystic nephrosis (adult polycystic nephrosis) can be diagnosed through the assistance of a detection result, previous unknown new mutation on a plurality of PKD1 real genes can be obtained and supplied to doctors or researchers so that the relevance between the mutation and the adult polycystic nephrosis can be studied.

The invention provides a recombinant vector used for carrying out foreign gene secretory expression in an auxotrophic kluyveromyces marxianus strain as well as a preparation method and application of the recombinant vector. The recombinant vector comprises ampicillin resistance genes, a PKD1 vector, inulase promoters, signal peptides, multiple cloning sites, inulase terminators, nutritional gene promoters and a nutritional gene open reading flame according to the sequence. The constructed recombinant vector used for carrying out foreign gene secretory expression and the preparation method of the recombinant vector can be used for constructing a transformant to achieve secretory expression of foreign genes.

The invention provides a recombinant vector for expressing a histidine-tag-fused foreign gene in a Kluyveromyces marxianus nutritional deficient strain, and a preparation method and application of the recombinant vector. The recombinant vector sequentially comprises an ampicillin resistance gene, a PKD1 vector sequence, an inulase promotor, multiple cloning sites, an inulase terminator, a nutritional gene promotor and a nutritional gene open reading frame, and further comprises histidine tags located at C ends or N ends of the multiple cloning sites. The recombinant vector provided by the invention can be used for building a transformant to realize expression of the foreign gene.

Compositions useful for examining the PKD1 gene are provided. In addition, methods for detecting mutations of the PKD1 gene, which can be associated with autosomal dominant polycystic kidney disease in humans, are provided. Methods for diagnosing a mutant PKD1 gene sequence in a subject also are provided, as are methods of treating a subject having a PKD1-associated disorder.

The invention relates to the field of disease transmission gene detection, in particular to a PCR (polymerase chain reaction) primer for amplifying a PKD (polystic kidney disease)1 exon ultra-long fragment, a kit for detecting PKD1 gene mutation and application. PKD1 exons are 2nd to 46th exons; the PCR primer has the primer with the base sequences shown by SEQ ID NO:1 and SEQ ID NO:2. The kit has the advantages that the diagnosis accuracy is high; the operation flow process is simple, convenient and efficient.

The invention discloses a detection method and a detection kit for PKD1 gene and PKD2 gene mutation. Amplification is performed by creatively designing multiple pairs of specific long fragment PCR primers, and when amplification is performed by adopting the human genome DNA as a template, amplification of pseudogenes with high homology can be avoided, and therefore the appearance of the false positive and false negative result brought by the pseudogenes can be avoided, and the detection accuracy of mutation of the PKD1 gene and PKD2 gene can be greatly improved. A high-throughput sequencing technique is combined, and the method and the kit when compared with a traditional medical exon trapping technique, can simplify a technical process, reduce the detection cost and shorten the detectionperiod.

The invention relates to a detection method of adult type polycystic kidney. The treatment mutation of adult type polycystic kidney disease-causing genes PKD1 and PKD2 is detected and identified by adopting a long fragment PCR (Polymerase Chain Reaction) capturing, second generation sequencing and first generation identification. Compared with an existing probe capturing technology, true and false genes can be distinguished, real genes are specifically captured and interference caused by the false genes is reduced; the ratio of all components is optimized and the consistency of capturing is ensured; the conditions that the uniformity of data is poor and the data quantity of partial segments is not enough are avoided; an optimized database building scheme has good stability and automatic database building is convenient to carry out; after an existing analysis method is tested, a detection result can be processed very well and a correct result is found.

The invention relates to the field of genetic disease gene detection, in particular to a PCR primer group for amplifying a PKD1 gene. The PCR primer group comprises one or more pairs in a first primerpair, a second primer pair, a third primer pair and a fourth primer pair. According to the primer group disclosed by the invention, the length of an amplicon covering an exon No.1 is increased, stable amplification of an exon No.1 region is successfully realized, and an amplification product covers all exon regions and most of intron regions of PKD1; a PKD1 gene sequence is specifically obtained,and a pseudogene sequence of PKD1 cannot be completely amplified; and under the condition that pseudogene interference is completely eliminated, the variation of the PKD1 gene, including known variation and unknown variation, can be detected more accurately.

The present invention provides a means for efficiently amplifying the exons of PKD1 and PKD2 genes, and a primer set that can amplify all the exons of PKD1 and PKD2 genes under a single set of PCR conditions.

The invention discloses an STR locus of a PKD1 gene. The STR locus has a nucleic acid sequence shown by SEQ ID NO.1 or SEQ ID NO.2. The invention also discloses an application of the STR locus of the PKD1 gene, wherein the STR locus is applied to the preplantation genetile diagnosis or prenatal diagnosis of autosomal dominant polycystic kidney. With higher resolution, the STR locus of the PKD1 gene disclosed by the invention is applied to the linkage heredity analysis of the PKD1 gene, can be used for remarkably improving the typing recognition efficiency and accuracy, and provides a basis for clinical preplantation genetile diagnosis of autosomal dominant polycystic kidney.

The invention provides a primer composition, a product and a method for detecting a PKD1 variant single sperm. The primer composition comprises primers capable of specifically amplifying a PKD1 gene and SNP in a 2Mb upstream and downstream range of the PKD1 gene. The primer composition can be used for genetic marking of variant sperms and therefore distinguish high-pathogenicity-risk haplotypes of men.

The present invention relates to methods of detecting novel mutations in a PKD1 and/or PKD2 gene that have been determined to be associated with autosomal dominant polycystic kidney disease (ADPKD) in order to detect or predict the occurrence of ADPKD in an individual.

The present invention provides a production method and applications of an autosomal dominant polycystic kidney disease gene mutation pig, wherein a gene editing technology is used to introduce insertion mutation into the 5# exon of the pig PKD1 gene and knockout the pig PKD1 gene to construct an autosomal dominant polycystic kidney disease gene mutation pig model. The constructed gene mutation pig model of the present invention can be used for research and drug screening of the autosomal dominant polycystic kidney disease.

The invention discloses application of apigenin in preparation of a medicine for treating and/or preventing autosomal dominant hereditary polycystic kidney disease. The application of an MDCK vesiclemodel proves that the apigenin can inhibit the formation and growth of vesicles, the intrarenal pharmacological activity of the apigenin is determined through an embryo kidney vesicle model, and the development of kidney vesicles is remarkably inhibited under the condition that the normal growth of the kidney is not influenced. Finally, in a Pkd1 gene knockout polycystic kidney mouse model, it isfurther proved that the apigenin can effectively inhibit generation and development of the kidney vesicles in the mouse body. The invention also shows that the apigenin has no cytotoxicity and has noobvious influence on kidney cell viability, that is, the vesicle inhibiting effect of the apigenin is irrelevant to cytotoxicity; and meanwhile, the apigenin can inhibit a signal path related to proliferation in kidney cells, and is one of important mechanisms for inhibiting generation and development of the kidney vesicles. The result indicates that the apigenin can be used for treating the autosomal dominant hereditary polycystic kidney disease.

The present invention relates to a pharmaceutical composition for treating wounds or revitalizing skin comprising the Euphorbia kansui extract, the fractions thereof, or the diterpene compound isolated therefrom as an active ingredient. The Euphorbia kansui extract may act on epithelial cells to induce PKD1 activity required for improving the reproduction capability of differentiated epithelial cells, and thus may induce the phosphorylation of lower ERK1 and the generation of Cycline D, thus exhibiting an excellent ability to activate the reproduction of damaged skin. Therefore, the Euphorbia kansui extract may be used effectively as an active ingredient in a pharmaceutical composition for treating wounds or reproducing skin, a health food for recovering skin damage or reproducing skin, or a functional cosmetic for inducing skin cell activity.