2694 results about "Mutation" patented technology

The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.

The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.

The invention belongs to the technical field of genetic breeding, and particularly relates to a molecular marker influencing sheep weight traits and application thereof, and the molecular marker comprises a site I or a site II. The nucleotide sequence of the molecular marker containing the site I is as shown in SEQ ID NO.1, and mutation from T to C occurs at the 101bp position in the SEQ ID NO.1; the nucleotide sequence of the molecular marker containing the site 2 is as shown in SEQ ID NO.2, and mutation from A to G occurs at the 101bp position in the SEQ ID NO.2. According to the molecular markers influencing the sheep weight traits, the marker I and the marker II can be used for identifying the sheep weight traits, and the offspring weight can be increased by selecting TT or AA genotype individuals as male parents or female parents.

The invention belongs to the technical field of molecular biology, and particularly relates to a molecular marker related to the number of branches of medicago sativa and application of the molecular marker. The invention solves the technical problems that the traditional new variety breeding of alfalfa with a large number of branches is single plant selection according to the number of branches of breeding offspring, and the method is time-consuming, labor-consuming and low in accuracy. The technical scheme of the invention is a molecular marker related to the number of branches of medicago sativa. The specific information is as follows: chromosome: chr2; the position is 57649197; sNP (Single Nucleotide Polymorphism) typing: C / A. The invention also designs a primer combination aiming at the molecular marker, and the primer combination can be used for directly and specifically distinguishing and detecting A or C basic groups of SNP mutation sites.

The invention relates to the technical field of molecular biology and molecular markers, in particular to an SNP (Single Nucleotide Polymorphism) molecular marker located on a porcine chromosome 14 and related to porcine reproductive traits and application. The SNP site of the SNP molecular marker located on the No.14 chromosome of the pig and related to the reproductive traits of the pig corresponds to the Cgt at the 105043272th site on the No.14 chromosome of the international pig reference genome version 11.1; t mutation is carried out, and the polymorphism of the basic group at the site affects the porcine reproductive traits; wherein the reproductive performance of pigs with CC and TC genotypes is superior to that of pigs with TT genotypes. By optimizing the dominant alleles of the SNP molecular marker, the frequency of the dominant alleles can be increased generation by generation, the reproductive performance of pigs is improved, and the genetic improvement progress of the pigs is accelerated, so that the economic benefit of pig breeding is effectively improved.

The present invention provides a method and a kit for detecting a target nucleic acid to be detected by using a melting curve. The method includes designing a first primer, a second primer and a detection probe for the target nucleic acid sequence to be detected, performing PCR amplification in a PCR amplification system containing the first primer, the second primer, the detection probe, the sample to be detected, a nicking enzyme and a DNA polymerase, generating a reporter primer that is complementary to the detection probe to form a double-stranded product, obtaining the melting curve of the double-stranded product, and the melting curve of the double-stranded product is the melting curve corresponding to the target nucleic acid to be detected. The method of the present invention is a non-target-dependent melting curve method, and the melting point (T m value) of each double-stranded body can be calculated in advance, solving the problems of melting curve peak shift and easy misjudgment caused by the easy mutation of the target nucleic acid sequence to be detected.

The present invention provides a method and a kit for detecting a target nucleic acid to be detected through a melting curve. The method includes designing a first primer, a second primer and a detection probe for the target nucleic acid sequence to be detected, performing PCR amplification in a PCR amplification system containing the first primer, the second primer, the detection probe, the sample to be detected, a restriction endonuclease and a DNA polymerase, generating a reporter primer that is complementary to and pairs with the detection probe to form a double-stranded product, obtaining the melting curve of the double-stranded product, and the melting curve of the double-stranded product is the melting curve corresponding to the target nucleic acid to be detected. The method of the present invention is a non-target-dependent melting curve method, and the melting point (T m value) of each double-stranded body can be calculated in advance, solving the problems of melting curve peak shift and easy misjudgment caused by easy mutation of the target nucleic acid sequence to be detected.

The invention discloses a glycosyl transferase UGT76G1 mutant and a method for catalytically synthesizing rebaudioside M by using the glycosyl transferase UGT76G1 mutant, and relates to the technical field of biological catalytic synthesis. The glycosyl transferase UGT76G1 mutant is any one of the following components (A)-(C): (A) a protein obtained by performing any one or more of the following mutations on the basis of an amino acid sequence as shown in SEQ ID NO.1: the 89th amino acid is mutated into H from M; the 380th amino acid is mutated from L to M; the 411th amino acid is mutated from A to Y; (B) a protein which has 95% or 98% or more of identity with the amino acid sequence defined by (A) and has the same function as the amino acid sequence defined by (A); and (C) a fusion protein obtained by connecting a tag to the terminal of the protein defined in (A) or (B). The glycosyl transferase UGT76G1 mutant disclosed by the invention is obtained by mutating and screening glycosyl transferase UGT76G1, has higher catalytic activity, and can be used for efficiently synthesizing rebaudioside M by taking rebaudioside D and UDPG as substrates.

The present invention discloses a Gs12-7 endonuclease variant and a gene editing system mediated thereby. Specifically, by means of a rational mutation strategy, two Gs12-7 mutants were constructed and compared, and it was found that after the 157th amino acid of the Gs12-7 endonuclease was mutated from Glu to Arg, the activity of this gene editing enzyme could be significantly improved, and this variant was designated as Gs12-7MAX. The present invention provides an efficient gene editing technology mediated by the CRISPR-Gs12-7MAX system, which has broad application prospects in the field of genome site-directed modification.

The invention discloses a biological hazard big data analysis and monitoring early warning system, and relates to the technical field of public health safety, and an analysis subsystem in the system comprises a core logic module comprising a quality control unit, an error correction unit, an assembly unit and a box separation unit; the unit analysis module comprises a pathogen analysis unit, a resistance gene unit, a virulence evaluation unit and an evolution development unit; the flora integrated analysis module comprises a traceability analysis unit, a mutation characteristic unit, a propagation evolution unit and a transformation management and control unit; the early warning subsystem comprises a risk assessment and early warning system design unit, a dynamic research and propagation analysis unit, an assessment model construction unit, a pathogen evolution and function research unit, a toxicity and propagation risk comprehensive prediction unit, a pathogen risk monitoring network unit and an unknown pathogen and potential risk identification unit. According to the method, the biological hazard data can be comprehensively, efficiently and accurately analyzed.

The invention discloses a bovine I-type alpha interferon-ferritin fusion protein, a mutant thereof, a preparation method and an application of the bovine I-type alpha interferon-ferritin fusion protein. The bovine I-type alpha interferon is fused with a ferritin subunit, and interferon molecules are highly repeatedly and orderly displayed on the surface of a ferritin nanocage by utilizing the self-assembly characteristic of ferritin, so that the expression level, the structural stability and the antiviral activity of the interferon are remarkably improved. The fusion protein is further subjected to single-site or multi-site rational design mutation, and a mutant with significantly improved antiviral activity and stability is obtained. According to the invention, a silkworm or insect cell eukaryotic expression system is adopted to express the fusion protein or the mutant thereof, and the expression system is safe to operate, simple and convenient in procedure, low in cost and extremely beneficial to large-scale industrial production; the prepared fusion protein or mutant nanoparticles have application prospects in preparation of drugs or reagents for preventing or treating bovine viral diseases.

Aspects of the disclosure relate to compositions and methods for the diagnosis and / or treatment of C9orf72 negative sporadic amyotrophic lateral sclerosis (C9− sALS). In some embodiments, the disclosure relates to identifying a subject as having C9orf72 negative (C9−) sALS by detecting expression or activity of repeat-associated non-ATG (RAN) translation proteins (e.g., RAN proteins). In some embodiments, the methods and compositions of the disclosure identify certain gene or genes which comprise mutation(s) leading to the expression of the detected RAN proteins, and which were previously unknown to be associated with sALS. In some embodiments, said gene(s) can be used to identify or diagnose subjects having, suspected of having, or at risk of developing sALS which is unrelated to expansion mutations within the C9orf72 and / or SCA36 genetic loci (e.g., C9− sALS). In some embodiments, the disclosure relates to methods of treating C9− sALS by administering to a subject in need thereof an agent that reduces expression or activity of RAN proteins.

The invention includes a mutant T7 DNA ligase or a biologically active fragment thereof, which has greater activity than wild type T7 DNA ligase. The mutant T7 DNA ligase, or the biologically active fragment, has one or more substitutions differing from the wild type, as described more fully in the Summary. The preferred mutant T7 DNA ligase has at least one of the following mutations: E63K (SEQ ID NO:4), K73E (SEQ ID NO:6), K137E (SEQ ID NO:7), K174E (SEQ ID NO:9), E182K (SEQ ID NO:11), K210E (SEQ ID NO: 13), E243K (SEQ ID NO:15), D245R (SEQ ID NO: 17), E268K (SEQ ID NO:19), E272K (SEQ ID NO:21), E289K (SEQ ID NO:23), K295E (SEQ ID NO:25) and D336R (SEQ ID NO:27).

The invention provides cat serum albumin and application thereof, and relates to the technical field of protein engineering. According to the invention, mutation is carried out on the cat serum albumin for the first time to obtain a beneficial mutation site, so that the cat serum albumin mutant which can be highly expressed in a pichia pastoris system is obtained. In addition, the cat serum albumin mutant I31L also has the effect of treating ascites due to cirrhosis, and the treatment effect is obviously higher than that in the prior art. A new biological material is provided for application of the cat serum albumin, and a foundation is laid for genetic engineering modification of the cat serum albumin.

The invention relates to a molecular marker related to the content of 2-acetyl-3-methylpyrazine in pig muscle and application of the molecular marker, belonging to the technical field of determination or inspection methods of enzymes, nucleic acids or microorganisms. The technical problem to be solved by the invention is to provide a molecular marker related to the content of 2-acetyl-3-methylpyrazine in pig muscle. In order to solve the technical problem, the molecular marker provided by the invention is obtained through genome-wide association (GWAS) analysis, the nucleotide sequence of the molecular marker is as shown in SEQ ID NO: 1, and the molecular marker has an Agt at the 6328556 position of a chromosome 9 of a pig genome; a nucleotide single base of G is mutated, and the mutation obviously affects the content of 2-acetyl-3-methylpyrazine in pig muscles. By detecting the genotype of a to-be-detected pig at the SNP site, early selection of the content of 2-acetyl-3-methylpyrazine in pig muscles can be realized.

The invention belongs to the technical field of aquatic animal molecular markers and aquatic genetic breeding, and particularly relates to an SNP (Single Nucleotide Polymorphism) molecular marker remarkably related to growth traits of grass carp and application of the SNP molecular marker. The SNP molecular marker is located at the position of 23608308bp of the eleventh chromosome (SLG1123608308) of the grass carp, and is Tgt; and A basic group mutation. Experiments show that the SNP molecular marker developed by the invention has significant influence on four growth traits (Plt; 0.05), and the allele A has more excellent growth traits. The invention discloses application of an SNP (Single Nucleotide Polymorphism) molecular marker, an amplification primer or a kit in breeding grass carp with excellent growth traits. The SNP molecular marker provided by the invention is not limited by the age, sex and the like of the grass carp, can be used for breeding grass carp varieties with excellent growth traits, and even can be accurately screened after being hatched, so that the breeding process of the grass carp varieties with excellent growth traits is greatly accelerated.

The invention relates to the technical field of knowledge maps, in particular to a multi-task hepatitis B drug screening method and system based on knowledge map assistance, and the method comprises the following steps: based on hepatitis B virus genotype sequence data recorded along with time, patient drug use records and drug sensitivity. According to the method, virus genotype sequence data, patient drug use records, drug sensitivity and other multi-dimensional dynamic time sequence data are integrated, interaction events between entities are marked through timestamps, and virus variation tracks, drug curative effect changes and other dynamic characteristics are embedded into atlas node attributes; and the knowledge representation can reflect the time dependence in a real scene. A hyperedge connection multi-entity set is defined based on biological pathway annotation information and protein interaction data, the limitation that only a binary relation is supported in a traditional knowledge graph is expanded, a drug combination and multi-target synergistic effect mechanism is explicitly modeled, and misjudgment of the combination effect caused by simplification of the interaction relation is avoided.

The invention discloses a method for improving growth of corynebacterium glutamicum under high-temperature stress, and aims to overcome the problems of abnormal growth and metabolism, even death and the like caused by temperature rise of existing microorganisms in an industrial fermentation production process, adaptive laboratory evolution is adopted, corynebacterium glutamicum ATCC 13032 is used as an original strain, and the corynebacterium glutamicum ATCC 13032 is used as an original strain. And carrying out heat stress subculture for 42.9 days, and separating out the strains HES1 and HES2 with improved high temperature resistance. The whole genome is re-sequenced to obtain mutant elements cspB and gltA which enable the strain to generate high-temperature adaptive change. And carrying out high-temperature test on the abrupt change element. In specific implementation, the two mutants are respectively overexpressed, and in a test, compared with a control strain WT, the 42-DEG C high-temperature tolerance is respectively improved by about 14.4% and 7%. Therefore, the beneficial mutant obtained through adaptive laboratory evolution lays a good foundation for application of corynebacterium glutamicum in industrial high-temperature conditions.

There is provided a fluorinase variant thereof having at least 70% sequence identity to a sequence MSDLGX6TDDSVAQCKGLMLSICPX24VX26IX28DX30CHX33MTPX37DVVEGARYIVDLPR X52FPEGTVFATTTYPATGTX70X71RSVAX76RX78KX80AALGGARGQX90AGSGX95GX97E RAEGX103YIYIAPNNGLLTX116VIEEHGYX124EAYEVSX131TX133VIPX137X138PEPTFYSR EMVAIPSAHLAAGFPLX163X164VGRX168LX170DX172EIVRFEX179X180KX182X183X184VX186G X188X189LX191GX193X194X195X196X197DHPFGNX204WTNX208HRTDLEKAGIX219YX221TX223X 224KX226VX228DGVLX233FX235LPLX239PTFADAX246X247X248GX250PVX253YX255NSRGYLX2 62X263ARNAAX269LAYPYNLX277AGX280SVX283VTX286A (SEQ ID NO: 1), wherein X is a natural amino acid, and wherein the variant comprises one or more mutations at a site selected from the group consisting of an ion-egress site, a S-Adenosyl-L-Methionine (SAM) binding site, an ion-binding site (IBS), and a conserved site. Also disclosed are polynucleotides encoding the variants, vectors comprising the polynucleotides encoding the variants, and host cells comprising the vectors thereof. Also disclosed are Methods for producing the variants, methods of catalyzing the fluorination of a compound, uses of the fluorinase variants, and methods of treatment using the fluorinase variants thereof.

The invention belongs to the technical field of genetic breeding, and particularly relates to a molecular marker for identifying long-hair-strand Zhongwei goats and application of the molecular marker. The molecular marker comprises a first site or a second site or a third site. The nucleotide sequence of the molecular marker containing the site I is as shown in SEQ ID NO.1, and mutation from T to G occurs at the 102bp position in the SEQ ID NO.1; the nucleotide sequence of the molecular marker containing the site II is as shown in SEQ ID NO.2, and mutation from A to G occurs at the 102bp position in the SEQ ID NO.2; the nucleotide sequence of the molecular marker containing the site 3 is as shown in SEQ ID NO.3, and mutation from T to G occurs at the 102bp position in the SEQ ID NO.3. The molecular marker can be used for breeding the Zhongwei goats with the long feathers.

The invention relates to laccase as well as a mutant and application thereof, and belongs to the technical field of biology. The amino acid sequence of the laccase PnLac1 is as shown in SEQ ID NO. 2, and the nucleotide sequence of the laccase PnLac1 is as shown in SEQ ID NO. 1. The mutant is characterized in that aspartic acid at the 166th position of laccase PnLac1 is subjected to site-specific mutagenesis, histidine at the 348th position of laccase PnLac1 is subjected to site-specific mutagenesis, methionine at the 403th position of laccase PnLac1 is subjected to site-specific mutagenesis, or leucine at the 467th position of laccase PnLac1 is subjected to site-specific mutagenesis, amino acid sequences are shown as SEQ ID NO.4, SEQ ID NO.6, SEQ ID NO.8 and SEQ ID NO.10, and nucleotide sequences are shown as SEQ ID NO.3, SEQ ID NO.5, SEQ ID NO.7 and SEQ ID NO.9. The decoloring efficiency of the laccase PnLac1 on crystal violet reaches 5h, and the degradation rate reaches 75%. When the ABTS is used as a substrate, the enzyme activities of the laccase mutants H348F and L467M are respectively improved by 1.89 times and 1.65 times, and the ABTS has the potential of degrading stubborn substances; when guaiacol is used as a substrate, the enzyme activities of the laccase mutants D166A and M403F are respectively improved by 2.07 times and 3.72 times, and the guaiacol has a relatively high application prospect in the field of lignin.

The invention belongs to the technical field of pepper planting, and discloses a pepper multi-branch gene CaBr1 linked KASP molecular marker as well as a primer, a kit and application thereof, the KASP molecular marker takes pepper S8 (zhangshuang) as a reference genome, and the single nucleotide polymorphism at the 103175415th basic group on the No.8 chromosome is subjected to basic group G-to-A replacement. A chromosome region closely linked with multiple branches of the pepper is obtained by using a BSA (Bovine Serum Albumin) population positioning method, a molecular marker is developed in a candidate region to determine a candidate gene CaBr1, a KASP molecular marker is screened according to base mutation of the candidate gene, and the marker is used for carrying out genotype identification on 90 randomly sampled single plants of an F2 population, and the coincidence rate reaches 100%. The result not only contributes to pepper branch phenotype identification and assistant breeding, but also lays a foundation for map-based cloning of the branch gene and analysis of a molecular mechanism of pepper plant type regulation.

The invention relates to the technical field of agricultural biology, in particular to SNP related to soybean node spacing and development and application of a KASP primer of the SNP, S121140167 remarkably related to the soybean node spacing is located at the 12th chromosome 1140167 bp position of a soybean genome Wm82. A4. V1, the site polymorphism is C or T, and the TT genotype is used for providing technical support for molecular marker-assisted breeding of the soybean node spacing character. The invention further develops a KASP molecular marker which can directly perform specific distinguishing and detection on the C or T basic group of the SNP mutation site, and the marker can quickly and accurately identify the soybean internode spacing, reduce the influence of the environment on the identification of the soybean internode spacing character, shorten the breeding cycle and accelerate the selection and improvement of the soybean internode spacing character.

The invention discloses a rice salt stress resistant gene OsHAK11 coding protein and application thereof, and belongs to the field of plant genetic engineering. According to the method, a rice OsHAK11 gene (the nucleotide sequence is shown as SEQ ID NO.1) is knocked out through a CRISPR / Cas9 gene editing technology, and a mutant with significantly enhanced salt tolerance is obtained. The gene editing vector pEGCas9Pubi-B-OsHAK11 contains sgRNA of a region as shown in a target SEQ ID NO.4, a rice receptor material is transformed through agrobacterium tumefaciens mediation, and a plant with the OsHAK11 gene subjected to frame shift mutation is obtained through screening. A salt stress experiment shows that the survival rate of the mutant oshak11 is obviously higher than that of a wild type. The invention provides a new gene resource and an efficient technical means for salt-tolerant breeding of rice.

The invention discloses a ZNF423 gene molecular marker related to chicken carcass traits and application, and belongs to the technical field of biology. The nucleotide sequence of the molecular marker is as shown in SEQ ID NO: 1, and four sites exist; sNP1: the site is the 462nd site, the site has G > A mutation, and the site is divided into three genotypes of GG, AA and GA; sNP2 is a 510th site, and the site has A > G mutation and is divided into three genotypes of GG, AA and GA; sNP3: the site is the 741st site, and the site has A > G mutation and is divided into three genotypes of GG, AA and GA; sNP4: the site is the 753rd site, and the site has T > C mutation and has three genotypes of TT, CC and TC. The four SNP sites are obviously related to the carcass traits of the chicken, so that the carcass traits of the chicken can be accurately identified, and a new molecular marker is provided for molecular marker-assisted selective breeding.

The invention relates to a single nucleotide polymorphism (SNP) primer of a DSTN gene related to musk ketone content in natural musk and application of the single nucleotide polymorphism (SNP) primer, and belongs to the technical field of biological detection. The invention provides a single nucleotide polymorphism (SNP) primer of a DSTN gene related to the musk ketone content in natural musk, a molecular marker corresponding to the SNP primer is located at a 682371th basic group of a chromosome 23 of a forest musk deer reference genome, the basic group is mutated into A or C, the genotypes are AA and AC, and deoxyribonucleotide sequences of the SNP primer are shown as SEQ ID NO: 1 and SEQ ID NO: 2. According to a breeding target, by eliminating A / A genotype individuals and retaining A / C genotype individuals, the method has the beneficial effects that the relative content character of musk ketone in musk of the forest musk deer is efficiently and quickly identified, and a scientific basis is provided for early breeding of high-quality forest musk deer. The detection method disclosed by the invention is simple and easy to operate, can be carried out in a laboratory, and can also be applied to a genome breeding technology.

Methods for non-invasive cancer detection use a combination of genome-wide mutation and fragmentation features of cfDNA that facilitate cancer screening.

The invention belongs to the field of biosynthesis, and in particular relates to LBD (Levandanenediol Pyrophosphate) synthase and engineered yeast for producing sclareol. In order to solve the problem that in the prior art, the sclareol biosynthesis yield is generally low, LSLPPs mutant containing at least one mutation of D730L, D374L, N674L or G379M is obtained by performing mutation and optimization on LSLPPs pyrophosphate synthase, and the mutant is used for sclareol synthesis. Meanwhile, in order to solve the problem of genetic instability caused by free plasmid expression of part of saccharomyces cerevisiae strains, a sclareol synthesis pathway is constructed in a yeast genome, and meanwhile, an acetyl coenzyme A synthesis pathway, an MVA pathway and a sclareol synthesis pathway are enhanced; chassis bacteria for synthesizing sclareol are modified in a manner of knocking out part of transcription inhibition factors, and the yield of a 5L fermentation tank reaches 26.11 g / L and is greatly improved compared with the prior art.

The invention belongs to the technical field of genetic breeding, and particularly relates to a molecular marker related to the Chinese and defense goat fur character and application of the molecular marker, the Chinese and defense goat fur character is the hair strand bending length or the proportion of spica in the hair strand, the nucleotide sequence of the molecular marker is shown as SEQ ID NO.1, and C-T mutation occurs at the 102bp position of the sequence shown as SEQ ID NO.1. The molecular marker can be used for breeding the Zhongwei goat variety with long curving length of goat feathers and large proportion of spica in the feathers.

The invention belongs to the field of biosynthesis, and particularly relates to sclareol synthase and engineered yeast for producing sclareol. In order to solve the problem that in the prior art, sclareol biosynthesis yield is generally low, sclareol synthase is mutated and optimized, an SsScs mutant containing at least one mutation of Y491F, G307L or N269F is obtained, and the mutant is used for sclareol synthesis. Meanwhile, in order to solve the problem of genetic instability caused by free plasmid expression of part of saccharomyces cerevisiae strains, a sclareol synthesis pathway is constructed in a yeast genome, and meanwhile, an acetyl coenzyme A synthesis pathway, an MVA pathway and a sclareol synthesis pathway are enhanced; chassis bacteria for synthesizing sclareol are modified in a manner of knocking out part of transcription inhibition factors, and the yield of a 5L fermentation tank reaches 21.13 g / L and is greatly improved compared with the prior art.