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62 results about "Pseudogene" patented technology
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Pseudogenes are segments of DNA that are related to real genes. Pseudogenes have lost at least some functionality, relative to the complete gene, in cellular gene expression or protein-coding ability. Pseudogenes often result from the accumulation of multiple mutations within a gene whose product is not required for the survival of the organism, but can also be caused by genomic copy number variation (CNV) where segments of 1+ kb are duplicated or deleted. Although not fully functional, pseudogenes may be functional, similar to other kinds of noncoding DNA, which can perform regulatory functions. The "pseudo" in "pseudogene" implies a variation in sequence relative to the parent coding gene, but does not necessarily indicate pseudo-function. Despite being non-coding, many pseudogenes have important roles in normal physiology and abnormal pathology.
RNA interference mediated inhibition of gene expression using short interfering nucleic acid (siNA)
InactiveUS20050282188A1Improve bioavailabilityMinimize the possibilitySugar derivativesActivity regulationPseudogeneRegulator gene
This invention relates to compounds, compositions, and methods useful for modulating gene expression using short interfering nucleic acid (siNA) molecules. In particular, the instant invention features small nucleic acid molecules, such as short interfering nucleic acid (siNA), short interfering RNA (siRNA), double-stranded RNA (dsRNA), micro-RNA (miRNA), and short hairpin RNA (shRNA) molecules and methods used to modulate the expression of genes, such as expressed pseudogenes associated with the maintenance or development of diseases, disorders, traits, and conditions in a subject or organism. The invention also provides small nucleic acid molecules with reduced or attenuated immunostimulatory properties and methods for designing and synthesizing such small nucleic acid molecules having improved toxicologic properties while retaining RNAi activity.
Owner:SIRNA THERAPEUTICS INC
Materials and methods for increasing isoprenoid production in cells
InactiveUS7129392B2Other foreign material introduction processesIsomerasesPhytoene synthesisOpen reading frame
Owner:KUEHNLE AGROSYST COMPANY +1
RNA Interference Mediated Inhibition of Gene Expression Using Short Interfering Nucleic Acid (siNA)
InactiveUS20080249294A1Improves various propertyImprove the immunitySugar derivativesActivity regulationDiseasePseudogene
This invention relates to compounds, compositions, and methods useful for modulating gene expression using short interfering nucleic acid (siNA) molecules. In particular, the instant invention features small nucleic acid molecules, such as short interfering nucleic acid (siNA), short interfering RNA (siRNA), double-stranded RNA (dsRNA), micro-RNA (miRNA), and short hairpin RNA (shRNA) molecules and methods used to modulate the expression of genes, such as expressed pseudogenes associated with the maintenance or development of diseases, disorders, traits, and conditions in a subject or organism. The invention also provides small nucleic acid molecules with reduced or attenuated immunostimulatory properties and methods for designing and synthesizing such small nucleic acid molecules having improved toxicologic properties while retaining RNAi activity.
Owner:SIRNA THERAPEUTICS INC
RNA INTERFERENCE MEDIATED INHIBITION OF GENE EXPRESSION USING SHORT INTERFERING NUCLEIC ACID (siNA)
InactiveUS20100145038A1Improves various propertyImprove the immunitySugar derivativesDiseaseBiological body
This invention relates to compounds, compositions, and methods useful for modulating gene expression using short interfering nucleic acid (siNA) molecules. In particular, the instant invention features small nucleic acid molecules, such as short interfering nucleic acid (siNA), short interfering RNA (siRNA), double-stranded RNA (dsRNA), micro-RNA (miRNA), and short hairpin RNA (shRNA) molecules and methods used to modulate the expression of genes, such as expressed pseudogenes associated with the maintenance or development of diseases, disorders, traits, and conditions in a subject or organism.
Owner:MERCK SHARP & DOHME CORP
RNA interference mediated inhibition of gene expression using short interfering nucleic acid (siNA)
InactiveUS20070270579A1Improves various propertyImprove the immunitySugar derivativesBiological bodyPseudogene
This invention relates to compounds, compositions, and methods useful for modulating gene expression using short interfering nucleic acid (siNA) molecules. In particular, the instant invention features small nucleic acid molecules, such as short interfering nucleic acid (siNA), short interfering RNA (siRNA), double-stranded RNA (dsRNA), micro-RNA (miRNA), and short hairpin RNA (shRNA) molecules and methods used to modulate the expression of genes, such as expressed pseudogenes associated with the maintenance or development of diseases, disorders, traits, and conditions in a subject or organism. The invention also provides small nucleic acid molecules with reduced or attenuated immunostimulatory properties and methods for designing and synthesizing such small nucleic acid molecules having improved toxicologic properties while retaining RNAi activity.
Owner:SIRNA THERAPEUTICS INC
RNA interference mediated inhibition of gene expression using short interfering nucleic acid (siNA)
InactiveUS20080161256A1Improves various propertyImprove the immunitySugar derivativesGenetic material ingredientsDiseaseBiological body
This invention relates to compounds, compositions, and methods useful for modulating gene expression using short interfering nucleic acid (siNA) molecules. In particular, the instant invention features small nucleic acid molecules, such as short interfering nucleic acid (siNA), short interfering RNA (siRNA), double-stranded RNA (dsRNA), micro-RNA (miRNA), and short hairpin RNA (shRNA) molecules and methods used to modulate the expression of genes, such as expressed pseudogenes associated with the maintenance or development of diseases, disorders, traits, and conditions in a subject or organism. The invention also provides small nucleic acid molecules with reduced or attenuated immunostimulatory properties and methods for designing and synthesizing such small nucleic acid molecules having improved toxicologic properties while retaining RNAi activity.
Owner:SIRNA THERAPEUTICS INC
RNA interference mediated inhibition of gene expression using short interfering nucleic acid (siNA)
InactiveUS20070160980A1Improves various propertyImprove the immunitySugar derivativesGenetic material ingredientsDiseaseBiological body
This invention relates to compounds, compositions, and methods useful for modulating gene expression using short interfering nucleic acid (siNA) molecules. In particular, the instant invention features small nucleic acid molecules, such as short interfering nucleic acid (siNA), short interfering RNA (siRNA), double-stranded RNA (dsRNA), micro-RNA (miRNA), and short hairpin RNA (shRNA) molecules and methods used to modulate the expression of genes, such as expressed pseudogenes associated with the maintenance or development of diseases, disorders, traits, and conditions in a subject or organism.
Owner:SIRNA THERAPEUTICS INC
Method and system for detection of phenotype genes and analysis of biological information
ActiveCN101930502AReduce misleadingEasy to handleMicrobiological testing/measurementSpecial data processing applicationsNucleotideData information
The invention discloses a method and a system for detection of phenotype genes and analysis of biological information. The method comprises the following steps of: performing local comparison between the sequence of target genes and nucleotide sequences of predicted genome coding regions of all allied species respectively, and obtaining a homologous sequence according to the local comparison results; screening the homologous sequence to obtain the homologous genes; extracting a DNA sequence from the homologous genes, converting the DNA sequence into a protein sequence, performing the overall comparison, and then converting the protein sequence into the DNA sequence; constructing a gene tree for the DNA sequence obtained by conversion, and working out Dn / Ds of each branch; and performing positive selection detection and detecting positive selection loci. The method and the system provided by the invention have the advantages of quickly processing a large amount of data information and discovering more accurate information, reducing misguiding of pseudogenes on analysis of biological information and helping to acquire the biological information to explain more biological problems.
Owner:BGI TECH SOLUTIONS
Manipulation of genes of the mevalonate and isoprenoid pathways to create novel traits in transgenic organisms
InactiveUS20050241017A1Other foreign material introduction processesIsomerasesOpen reading frameNucleotide
Disclosed are the uses of specific genes of the mevalonate and isoprenoid biosynthetic pathways, and of inactive gene sites (the pseudogene) to (1) enhance biosynthesis of isopentenyl diphosphate, dimethylallyl diphosphate and isoprenoid pathway derived products in the plastids of transgenic plants and microalgae, (2) create novel antibiotic resistant transgenic plants and microalgae, and (3) create a novel selection system and / or targeting sites for mediating the insertion of genetic material into plant and microalgae plastids. The specific polynucleotides to be used, solely or in any combination thereof, are publicly available from GeneBank and contain open reading frames having sequences that upon expression will produce active proteins with the following enzyme activities: (a) acetoacetyl CoA thiolase (EC 2.3.1.9), (b) 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) synthase (EC 4.1.3.5), (c) HMG-CoA reductase (EC 1.1.1.34), (d) mevalonate kinase (EC 2.7.1.36), (e) phosphomevalonate kinase (EC 2.7.4.2), (f) mevalonate diphosphate decarboxylase (EC 4.1.1.33), (g) isopentenyl diphosphate (IPP) isomerase (EC 5.3.3.2), and (h) phytoene synthase (EC 2.5.1.32).
Owner:UNIV OF HAWAII +1
Gene positioning system for plastidic transformation and products thereof
InactiveUS20120094385A1Improve homogeneityFermentationVector-based foreign material introductionNicotiana tabacumPseudogene
The present invention is directed to Gene Positioning technology for biosynthesis of one or more products of interest via plastid transformation of plants or algae, such as for example tobacco, Lemna, Rhodomonas and Cryptomonas, with pseudogene vectors containing polynucleotides encoding one or more products of interest. The present invention is also directed to transgenic plants or algae, containing pseudogene vectors integrated into a desired locus in the plastid genome, allowing simultaneous expression of multiple transgenes.
Owner:KUEHNLE AGROSYST
Oligonucleotides and methods for detecting KRAS and PIK3CA mutations
ActiveUS20120288863A1Strong specificityHigh sensitivitySugar derivativesMicrobiological testing/measurementForward primerKRAS
Provided are oligonucleotides that are capable of detecting KRAS and PIK3CA mutations in both cancer patients and healthy individuals with high specificity in kPCR assays. When the oligonucleotides are used as forward primers in conjunction with a defined genotyping algorithm spreadsheet, the primers are capable of enhancing detection of KRAS codon 12, 13, and 61 and PIK3CA codon 542, 545, and 1047 single nucleotide polymorphisms (SNPs) in a background of wild-type sequences. The oligonucleotides of the present invention are also capable of preventing pseudogene amplification when the oligonucleotides are hybridized as reverse primers or detection probes to the mismatch sequences.
Owner:SIEMENS HEALTHCARE DIAGNOSTICS INC
False gene data bank construction method of rice genome
The invention relates to a method for constructing pseudogene database of rice global genome, which comprises constructing a local data base of known rice global genome sequences in a computer system, proceeding search and comparison to the data base through BLAST program, obtaining standard BLAST format comparison result, using the SeqIO module in the Bioperl to analyze the comparison result, obtaining the information file recording characteristic value data for the pseudogenes and genes, removing redundant pseudogenes and genes data, screening and sorting pseudogenes, building data base of the pseudogenes by using characteristic value corresponding to pseudogenes as the data item marker.
Owner:ZHEJIANG UNIV
Related gene for high-yield L-leucine, construction method for engineering bacteria and application
ActiveCN109456987AImprove growth traitsGood characterBacteriaMicroorganism based processesSaccharic acidAgricultural science
The invention relates to a related gene for high-yield L-leucine, a construction method of engineering bacteria and application. The construction method for the engineering bacteria comprises the following steps: (1) integrating a leuA mutant gene to a cgl1135 pseudogene locus, wherein the leuA mutant gene is as shown in sequence 1; (2) integrating an ilvBN mutant gene to a cgl1890 pseudogene locus, wherein the ilvBN mutant gene is as shown in sequence 2; and (3) replacing a citrate synthase primary promoter by a PCP_2928 specific promoter, wherein the PCP_2928 specific promoter is as shown insequence 3. By adopting the technical scheme provided by the invention, 32 g / L L-leucine can be produced by fermenting for 30 hours in a shaking flask, and 60 g / L L-leucine can be produced by fermenting for about 50 hours in a 5L fermenting tank; the maximum production intensity can reach 1.5 g / (L*h); the saccharic acid conversion rate is 30 percent; and the production level is the highest levelfor producing the L-leucine by the fermenting method reported at present.
Owner:TIANJIN UNIV OF SCI & TECH
Homologous pseudogene variation detection method
ActiveCN111081315AAvoid out-of-sync problemsImprove accuracyProteomicsGenomicsReference genome sequenceReference genes
The invention provides a homologous pseudogene variation detection method. The method comprises the following steps: constructing a reference gene set according to a latest updated gene sequence; randomly obtaining normal sample original data to create a contrast set; comparing the original data of the normal sample of the reference set with the reference gene set to obtain a comparison result ofthe reference set; carrying out variation detection on each sample in the contrast set, and constructing contrast set variation site frequency data; acquiring actual measurement sample original data,comparing the actual measurement sample data with a reference gene set, and performing variation point detection on an actual measurement sample comparison result to obtain an actual measurement sample variation point detection result; and carrying out site comparison screening on the actually measured sample variation site detection result and the contrast set variation site frequency data to obtain the gene variation site of the actually measured sample. Compared with the prior art, the method can solve the problem of asynchronous updating of the reference genome sequence and the gene sequence, improve the accuracy of gene locus variation detection and shorten the detection period.
Owner:SUZHOU SMK GENE TECH LTD
Composition and methods for the detection of cripto-3
InactiveUS20100041032A1High expressionSugar derivativesMicrobiological testing/measurementCancer cell linesCripto
The present invention is based, at least in part, on the discovery that the pseudogene TDGF3 (Cripto-3) is expressed in cells and, in particular, that TDGF3 overexpression is associated with transformation of a cell, e.g., TDGF3 is overexpressed in cancer cell lines and cells from tumor tissue. Accordingly, the invention provides compositions, kits, and methods for detecting the presence of a TDGF3 polynucleotide or polypeptide in a sample. The invention further provides compositions, kits and methods for assessing whether a cell is transformed as well as for assessing whether a patient is a suitable candidate for an anti-Cripto antibody therapy.
Owner:BIOGEN MA INC
A detection method and a detection kit for PKD1 gene and PKD2 gene mutation
InactiveCN108707648AImprove detection accuracyAvoid amplificationMicrobiological testing/measurementHuman DNA sequencingHigh homology
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.
Owner:GUANGZHOU JIAJIAN MEDICAL TESTING CO LTD
Preparation method, purification method and applications of PEG-modified recombinant humanized urate oxidase
ActiveCN109852623AAggregated forms are abundantRelief the painBacteriaPeptide/protein ingredientsPurification methodsHigh doses
The invention relates to a preparation method and purification method of recombinant humanized urate oxidase, a nucleic acid sequence encoding recombinant humanized urate oxidase protein, a plasmid vector expressing the recombinant urate oxidase protein and engineering bacteria. According to the invention, a human uricase pseudogene sequence is used as a template to carry out mutation on the sitethereof, so that the recombinant humanized urate oxidase with activity and higher homology (92.6%) than the human pseudogene sequence is obtained. Meanwhile, a purification process is improved, and the activity loss of uricase in the purification process is reduced to the maximum extent. The high-dose humanized urate oxidase prepared by the method shows obvious effect of relieving pain caused by sodium urinate crystallization after two days of dosing, and has the same symptom relief degree as a sham operation group after 4 days of dosing, which indicates that the symptom is completely relievedand obvious progress is realized.
Owner:张文宇
CYP21A2 gene NGS data analysis method and device and application
PendingCN113724791AAccurately and effectively obtainProteomicsGenomicsPseudogeneHigh throughput sequence
The invention discloses a CYP21A2 gene NGS data analysis method and device and application. The method comprises the steps: setting a window and a sliding window for a chip capture area, performing the depth correction according to the depth of each window and GC content, and calculating the copy number of each window according to a hidden horse model for the corrected depth; counting CYP21A2 gene region sequences, selecting paired sequences, judging bases of a target site and an auxiliary site according to the positions of the target site and the auxiliary site in a paired sequence interval, and judging whether the paired sequences support true gene mutation or not by contrasting bases at true and false genes of the target site of a reference sequence; setting a threshold value by comparing with each site according to a copy number correction value of the sample to be detected, and determining the sample smaller than the threshold value as a mutation candidate sample; synthesizing the results, adding mutation site numbers of all samples to prompt CNV, and obtaining CNV and point mutation results of the CYP21A2 gene. According to the method disclosed by the invention, the copy number variation and point mutation information of the CYP21A2 gene can be accurately and effectively obtained by utilizing high-throughput sequencing data.
Owner:TIANJIN MEDICAL LAB BGI +1
Detection kit for early diagnosis of colorectal cancer and application of detection kit
InactiveCN104561258AEasy to detectImprove detection efficiencyMicrobiological testing/measurementForward primerPseudogene
The invention discloses a detection kit for early diagnosis of colorectal cancer. The detection kit comprises three pairs of specific amplification primers which are respectively used for detecting rRNA-pseudogene, HECTD1 and ZNF843 gene promoter and endogene region methylation and a methylation-specific sequencing primer, wherein the three pairs of specific amplification primers which are respectively used for detecting rRNA-pseudogene, HECTD1 and ZNF843 gene promoter and endogene region methylation comprise methylation-specific forward primers and methylation-specific reverse primers. According to the detection kit, auxiliary diagnosis of the colorectal cancer is realized by detecting the methylation degree of the rRNA-pseudogene, HECTD1 and ZNF843 gene promoter region and endogene region associated with the colorectal cancer; the detection kit is simple, convenient, high in detection efficiency and high in targeting property, has the advantages of accuracy, reliability, flexibility, rapidness and economy and contributes to early discovery and timely treatment of the colorectal cancer.
Owner:上海汇真生物科技有限公司
Method for detecting CAH related true and false genes
ActiveCN112442530AHigh sensitivityEasy to operateMicrobiological testing/measurementSequence analysisPseudogeneStructural variant
The invention belongs to the field of molecular biology, and particularly relates to a method for detecting CAH related true and false genes. Specifically, the invention discloses the detection methodfor determining the mutation condition of the CAH related genes. The CAH related genes comprise a CYP21A2 gene and a CYP11B1 gene. The method comprises the following steps of S1, extracting DNA in asample and carrying out PCR amplification by using a primer group; S2, detecting an amplification product by using a third-generation sequencing platform; and S3, analyzing the sequencing result to obtain the mutation condition of the CAH related genes. According to the method, the true and false genes are expanded together by designing the primer group, a mutation type can be detected by long-fragment library building sequencing, known CYP21A2 and CYP11B1 gene pathogenic mutations can be detected at the same time, the sensitivity is high, only 1-50ng of DNA is required to be contained in thesample, the operation is convenient, the deletion of long fragments can be detected, the true and false genes can be distinguished, and meanwhile, the unknown chromosome structural variation can be detected.
Owner:BEIJING GRANDOMICS BIOTECH
Array based method and kit for determining copy number and genotype in pseudogenes
Provided herein are methods and associated compositions, kits, systems, devices and instruments useful for genetic analysis where there i s / a re a sequence(s) similar to the gene of interest in a sample, e.g. for determining the spinal muscular atrophy (SMA) carrier status. In the methods, a combined copy number for related genes (e.g., a gene of interest and its pseudogene, e.g. SMN1 and SMN2) can be determined via an assay. In addition, relative amounts of the related genes, i.e., a ratio of the related genes can be determined via the assay. Using the data of the combined copy number and the ratio of the related genes, the genotype of the gene of interest (as well as its pseudogene(s), if desired) can be determined with high accuracy.
Owner:AFFYMETRIX INC
Primer group and kit for amplifying PKD1 gene
ActiveCN112195238AAccurate detectionExtend amplicon lengthMicrobiological testing/measurementDNA/RNA fragmentationMedicinePseudogene
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.
Owner:上海韦翰斯生物医药科技有限公司
Kit for detecting human natural killer cell immunoglobulin-like receptor KIR genotyping
ActiveCN112442525AHigh detection throughputMeet testing needsMicrobiological testing/measurementDNA/RNA fragmentationMultiplexReceptor
The invention provides 16 common genes for detecting a human natural killer cell immunoglobulin-like receptor KIR, wherein the 16 common genes comprise 14 KIR functional genes (2DL1, 2DL2, 2DL3, 2DL4,2DL5A / B, 2DS1, 2DS2, 2DS3, 2DS4, 2DS5, 3DL1, 3DL2, 3DL3 and 3DS1) and 2 pseudo genes (2DP1 and 3DP1), and a combination of a PCR amplification primer group and a Taqman probe of the common variant ofthe 2DS4; and the combination comprises six primer groups. The invention also provides a kit containing the combination of the PCR amplification primer group and the Taqman probe. The invention has the following technical effects that: an ARMS analysis method is combined with a Taqman multiplex fluorescence PCR technology to carry out qualitative typing detection on the KIR gene; furthermore, improvement is carried out on the basis of a traditional ARMS; various defects of an existing detection method are overcome; and the method disclosed by the invention has wide application prospects and clinical reference value.
Owner:JIANGSU WEIHE BIOTECH
Rabies virus ERA attenuated vaccine mutant strain as well as preparation method and live rabies vaccine
ActiveCN103881985AReduce disease riskInactivation/attenuationMicroorganism based processesArgininePseudogene
The invention relates to a rabies virus ERA attenuated vaccine mutant strain as well as a preparation method and a live rabies vaccine, wherein the rabies virus ERA attenuated vaccine mutant strain is capable of expressing and coding a mutant glycoprotein, and the mutant glycoprotein has the mutations that an amino acid in the second site of a signal peptide is missing, an amino acid in the third site of the signal peptide is missing, the amino acid in the 333rd is mutated into glutamic acid from arginine, a psi pseudogene region is missing, and the gene G of the glycoprotein is inserted before the gene M. From the above, the rabies virus ERA attenuated vaccine mutant strain is safer, more efficient, and also lower in cost.
Owner:北京中联康生物科技股份有限公司
Catalytically active human urate oxidase
ActiveCN103834623BCatalytically activeLow immunogenicityPeptide/protein ingredientsSkeletal disorderPseudogeneExon
The invention relates to a series of human-derived urate oxidases with catalytic activity, DNA sequences encoding them, expression vectors containing the DNA sequences, as well as host cells containing the expression vectors. The human-derived urate oxidases have recombinant amino acid residue sequences obtained by specific locus amino acid residue replacement or exon locus amino acid residue replacement on the basis of SEQ ID NO:17. According to the invention, human urate oxidase pseudogene is successfully revived, and human-derived urate oxidases with catalytic activity can be expressed. Thus, the human-derived urate oxidases with catalytic activity have good prospects in preparation of low immunogenicity and even low immunogenicity uric acid lowering drugs.
Owner:CHINA PHARM UNIV
Scalable biotechnological production of DNA single strand molecules of defined sequence and length
ActiveCN109844113AMicrobiological testing/measurementNucleic acid vectorDNA nanotechnologySingle strand
The present invention relates to a method for the recombinant production of DNA single stranded molecules, comprising the steps of (1) providing a pseudogene nucleic acid; (2) integrating the pseudogene nucleic acid into a vector, transforming bacterial cells with said vector and producing a precursor ssDNA from said vector under bacterial culture conditions; (3) isolating the precursor ssDNA fromthe bacterial culture; (4) digesting the precursor ss DNA under reaction conditions where self-cleaving DNA sequences become active; and (5) separating and obtaining the target single stranded DNA oligo- or polynucleotide(s). The method of the present invention is suitable for the mass production of DNA single stranded molecules. The present invention further relates to the use of the target single stranded DNA oligo- or polynucleotide(s), in particular in DNA nanotechnology, or as research tools.
Owner:TECH UNIV MUNCHEN
Method for determining optimal sequence alignment threshold for gene database
The invention discloses a method for determining an optimal sequence alignment threshold for a gene database. The method comprises the following steps: 1) acquiring a protein sequence; 2) removing sequences included in the gene database from the protein sequences, and creating a pseudogene data set; 3) dividing protein sequences in the gene database into subclasses to serve as a true gene data set; 4) combining the pseudogene data set and the true gene data set, and simulating a DNA sequence with a specific length generated by high-throughput sequencing for any protein sequence to obtain a simulated data set; 5) performing sequence comparison, and comparing a comparison threshold value to obtain a value; 6) judging a sequence comparison result, and calculating the numbers of true positive,mismatch, false positive, false negative and true negative; 7) calculating sensitivity, accuracy and a Mathesian correlation coefficient; 8) drawing a three-dimensional curved surface graph by takingthe similarity as an X axis, the E value as a Y axis and the sensitivity, the accuracy or the Malaysian correlation coefficient as a Z axis; and 9) determining an optimal sequence alignment thresholdof the gene database in the three-dimensional curved surface graph.
Owner:PEKING UNIV
Primer and reagent kit for detecting CYP21 gene mutation and application of primer and reagent kit
InactiveCN111471761AReduce pollutionIncrease the total lengthBioreactor/fermenter combinationsBiological substance pretreatmentsGenes mutationAURKA Gene
The invention provides primers and reagent kits for detecting CYP21 gene mutation and an application of the primer and reagent kit. The primers comprise a specific primer for an overall length sequence of a CYP21A2 gene, a specific primer with 30kb deletion and mutation of a CYP21 authenticity gene and a specific primer of recombination / fusion mutation of the CYP21 authenticity gene. The constructed reagent kits and primers are small in quantity, detection of various mutation types of the CYP21 gene can be completed once, the process is simple, the results are high in precision, and the primers and the reagent kits have broad application prospects in the field of diagnosis of congenital adrenal hyperplasia.
Owner:CAPITALBIO GENOMICS
Protein kinase CK2 gene mutations, amplifications and polymorphisms in human cancers and methods of use
ActiveUS20130230852A1Improve the level ofReduce the possibilityBacteriaTransferasesHuman cancerProtein kinase CK2
The present disclosure provides methods and compositions for diagnosis and for providing a prognosis of a cancer patient by assessing CK2 alpha 1 pseudogene (CSNK2A1P) status. The present disclosure also provides polypeptide, polynucleotide, host cell, and transgenic animal compositions associated with CSNK2A1P.
Owner:RGT UNIV OF CALIFORNIA
Reagent composition and detection method for detecting autosomal dominant polycystic kidney disease
PendingCN114480603ASolve puzzlesThe experimental method is simpleMicrobiological testing/measurementGeneticsGenomic DNA
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.
Owner:广州源古纪科技有限公司
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