50 results about "IMPACT gene" patented technology

This invention is in the area of cobalamin-mediated delivery of nucleic acids and analogs and derivatives thereof to a host to affect gene expression.

Embodiments of the present invention include novel inference methods to analyze complex biological information, including gene networks. In some embodiments, time course data is obtained simultaneously for a large number of genes in an organism. New methods include refinements of Bayesian inference methods and the application of those methods to determine causal relationships between expressed genes and, in some embodiments, to determine upstream influencing genes of regulated genes. Additional refinements of the Bayesian model include the use of bootstrapping methods and determination of marginal effects, thereby providing more accurate information on the network between expressed genes. Information about the gene network can be stored in a memory device and sent to an output device or to a remote location.

The invention relates to the use of nucleic acid sequences for regulating gene transcription and expression, said novel promoters and expression units, methods for modifying or inducing the gene transcription rate and / or expression rate, expression cassettes containing said expression units, genetically modified microorganisms having a modified or induced transcription rate and / or expression rate, and methods for producing biosynthetic products by cultivating said genetically modified microorganisms.

The invention discloses a method for quickly detecting RFLP (restriction fragment length polymorphism) of SNP (single nucleotide polymorphism) of a common ox SIRT1 (silent information regulator 1) gene promotor region. The method comprises the following steps of: taking whole genome DNA (deoxyribonucleic acid) of common ox blood as a template and a primer pair P (F and R) as a primer; performing PCR (polymerase chain reaction) amplification on the common ox SIRT1 gene promotor region; digesting a PCR amplification product by using restriction endonuclease SmaI; performing agarose gel electrophoresis on segments after enzyme digestion; and identifying the SNP of the common ox SIRT1 promotor region according to a result of the agarose gel electrophoresis. Because important functions including muscle differentiation, lipogenesis and the like related to the SIRT1 are closely related to common ox meat quality characteristics, and the SNP can significantly affect the promotor activity of the SIRT1 gene and is related to various important economic characteristics of the common ox, the detection method provided by the invention lays a foundation for the establishment of the relationship between the SNP and growth characteristics of the SIRT1 gene, and can be used for marker assisted selection of the growth characteristics of the Chinese common ox so as to facilitate rapid establishment of common ox populations with excellent genetic resources.

The invention relates to the use of nucleic acid sequences for regulating gene transcription and expression, said novel promoters and expression units, methods for modifying or inducing the transcription rate and / or expression rate of genes, expression cassettes containing said expression units, genetically modified microorganisms with a modified or induced transcription rate and / or expression rate, and methods for producing biosynthetic products by cultivating the genetically modified microorganisms.

Five microRNA genes adopting a populus cellulose synthase gene as a target gene and applications thereof are provided. The micRNAs have sequences shown as SEQ ID NO:1, SEQ ID NO:2, SEQ ID NO:3, SEQ ID NO:4 or SEQ ID NO:5. The miRNAs have specific expression parts in plants and influence synthesis of cellulose in the specific parts of the plants. After precursor genes of the miRNAs, or mature miRNAs are directly put into expression vectors and transformed into the plants, precursors with occipital ring structures are formed in the plants, and is processed and modified to form mature miRNAs, thus inhibiting or influencing gene expression and achieving an objective of gene modification.

The invention discloses a gene mutation pathogenicity detection method and system based on a neural network and a medium. The method comprises the steps of inputting a gene detection VCF file to be detected and an HPO phenotype; obtaining a characteristic value of each gene variation according to the to-be-detected gene detection VCF file and the HPO phenotype; for each gene variation, inputting the characteristic value of the gene variation into a trained neural network model to obtain a pathogenicity comprehensive analysis result of the gene variation, wherein the neural network model is pre-trained to establish a mapping relationship between the characteristic value of each gene variation and the pathogenicity comprehensive analysis result of each gene variation. According to the invention, the subjective defect of manual analysis is overcome, and various factors influencing the pathogenicity of gene mutation can be comprehensively considered, so that the comprehensive analysis result is more objective and effective, the accuracy of pathogenicity analysis of gene mutation is greatly improved, and the gene interpretation efficiency is improved.

The invention relates to the use of nucleic acid sequences for regulating the transcription and expression of genes, the novel promoters and expression units therefor, methods for modifying or generating the transcription rate and / or expression rate of genes, expression cassettes containing the expression units, genetically modified micro-organisms with modified or generated transcription rates and / or expression rates, and methods for producing biosynthetic products by cultivating the genetically modified micro-organisms.

The invention provides a separate sgRNA molecule capable of specifically acting on a target site, and a method of acquiring the sgRNA molecule. The invention also provides a method of site-directed gene modification by using the specific sgRNA molecule. The sgRNA molecule can specifically act on the target site without affecting other sites having high sequence homology in genome.

The invention relates to the technical field of molecular biology and gene engineering, and particularly discloses siRNA and an application thereof. The siRNA inhibits IHH gene expression, the siRNA is a double strand, and the nucleotide sequence of the siRNA is as follows: a positive-sense strand: 5 'CCGACAUCAUCUUCAAGGATT 3'; and an antisense strand: 5 'UCCUUGAAGAUGAUGUCGGTT 3'. According to the invention, the siRNA influences the IHH gene function and the expression level of the signal channel gene so as to influence the creeping character of the chicken, so that people can deeply understand the molecular mechanism and the regulation mechanism formed by the creeping character of the chicken, and breed conservation and improvement work of the creeping chicken can be further carried out; and the application plays an important role in molecular breeding and production of important economic characters of livestock and poultry.

The invention relates to the use of nucleic acid sequences for regulating gene transcription and expression, said novel promoters and expression units, methods for modifying or inducing the gene transcription rate and / or expression rate, expression cassettes containing said expression units, genetically modified microorganisms having a modified or induced transcription rate and / or expression rate, and methods for producing biosynthetic products by cultivating said genetically modified microorganisms.

The invention provides a kit and buffer solution box integrated device for a gene sequencer and the gene sequencer, and relates to the technical field of gene sequencing, the kit and buffer solution box integrated device comprises a kit and a buffer solution box, and a box body of the kit is provided with a buffer solution box accommodating part; a detachable first identification piece is arranged on the side, close to the containing part, in the kit, the first identification piece is provided with a first identification part, and the first identification part comprises a plurality of first identification areas used for identifying information of the kit; the buffer solution box is provided with a detachable second identification piece, the second identification piece is provided with a second identification part, and the second identification part comprises a plurality of second identification areas used for identifying information of the buffer solution box; a first fool-proof part and a second fool-proof part are respectively arranged on the first identification piece and the second identification piece; the first fool-proof part and the second fool-proof part are matched with each other, so that the buffer solution box is matched with the kit. The technical problem that in the prior art, an independent kit and a buffer solution box affect the overall size of the gene sequencer is solved.

The invention discloses a gene combination for ASD evaluation and application thereof, and belongs to the technical field of gene detection. The gene combination for ASD evaluation is obtained on the basis that 1089 ASD cases are subjected to whole exome sequencing, the genetic structure of ASD is comprehensively analyzed, harmful variation in ASD related genes is comprehensively analyzed, 168 high-influence genes are obtained through comprehensive analysis and evaluation, the ASD related genes recorded in a part of a database are determined as low-influence genes, and the ASD related genes recorded in a part of a database are determined as low-influence genes. The detection rate of harmful variation of the high-influence gene combination in an ASD case group reaches 21.12%, which indicates that the high-influence gene combination can assist in improving the accuracy of ASD clinical diagnosis based on a genome level.

The invention provides a suicide-homicide plasmid, a saccharomyces cerevisiae traceless gene editing method using the suicide-homicide plasmid and application. The suicide-homicide plasmid comprises areplication origin, a selection marker, a Cas9 protein expression cassette and a sgRNA1 expression cassette, wherein the sgRNA1 expression cassette comprises a promoter, sgRNA1, scaffold and a termination sequence; and the sgRNA1, the scaffold and the termination sequence are designed for a common sequence of a gene editing vector and the suicide-homicide plasmid. The gene editing vector is transferred into saccharomyces cerevisiae, and then the suicide-homicide plasmid is transferred into the saccharomyces cerevisiae, so that a traceless edited saccharomyces cerevisiae strain can be obtained. The saccharomyces cerevisiae is edited by using the suicide-homicide plasmid, so that selection of the strain which successfully transforms the gene editing plasmid after gene editing is not affected, and the plasmid eliminating success rate is remarkably increased; and meanwhile, the traceless editing effect can be achieved through two rounds of plasmid transformation, and the traceless editingrate of the saccharomyces cerevisiae is further increased.

The invention relates to the use of nucleic acid sequences for regulating gene transcription and expression, said novel promoters and expression units, methods for modifying or inducing the gene transcription rate and / or expression rate, expression cassettes containing said expression units, genetically modified microorganisms having a modified or induced transcription rate and / or expression rate, and methods for producing biosynthetic products by cultivating said genetically modified microorganisms.

The invention discloses a neural network-based gene mutation pathogenicity detection method, system and medium. The method of the invention includes inputting a gene to be detected to detect a VCF file and an HPO phenotype; detecting a VCF file and an HPO table according to a gene to be detected. type to obtain the eigenvalues ​​of each gene variation; for each gene variation, input the eigenvalues ​​of the gene variation into the trained neural network model to obtain the comprehensive analysis results of the pathogenicity of the gene variation, the neural network model is pre-trained and established The mapping relationship between the eigenvalues ​​of each gene variation and the comprehensive pathogenicity analysis results of each gene variation. The present invention not only overcomes the subjectivity defect of manual analysis, but also can comprehensively consider various factors affecting the pathogenicity of gene mutation, so that the result of comprehensive analysis is more objective and effective, and greatly improves the accuracy of analysis on the pathogenicity of gene mutation , improving the efficiency of gene interpretation.

The invention belongs to the technical field of biological breeding, and discloses a genome selection method based on a population differentiation index FST. As the GBLUP method assumes that the LDs among the populations are consistent, and the genomic selection accuracy is influenced by directly utilizing the GBLUP method, compared with a GBLUP model, the model fstGBLUP provided by the invention can consider the LD inconsistency of the QTL and the SNP among the populations, so that the genomic selection accuracy is improved. The additive genome genetic relationship matrix constructed by the SNP screened by the group differentiation index FST and the additive genome genetic relationship matrix constructed by the remaining SNPs are respectively established, so that the method has higher predictive power, namely higher genome selection accuracy.

The invention relates to the technical field of pancreatic cancer SNP sites. The invention provides an SNP (Single Nucleotide Polymorphism) site related to pancreatic cancer susceptibility and application of the SNP site. The SNP site is rs11102484. A genetic variation (eQTL) map influencing gene expression is systematically drawn in a whole genome range by integrating multiple omics data such as a genome and a transcriptome, 82 potential pathogenic sites are further identified in combination with pancreatic cancer GWAS data of multiple people, and the expression abundance of 15 functional genes is regulated and controlled. Wherein the genetic variation with the highest comprehensive function score is rs11102484 located in a chromosome 1p13.2 region, and multi-population case contrast research proves that the mutation of the locus C > G can significantly reduce the onset risk of pancreatic cancer. The invention discloses a new mechanism of pancreatic cancer genetic susceptibility, deepens understanding of pancreatic cancer pathogenesis, and provides a certain scientific basis for individualized prevention of pancreatic cancer.

Methods for inactivating in a cell a mutant allele of the elastase, neutrophil expressed gene (ELANE gene) gene having a mutation associated with severe congenital neutropenia (SCN) or cyclic neutropenia (CyN) and which cell is heterozygous at one or more polymorphic sites selected from the group consisting of: rs10424470, rs4807932, rs10414837, rs376107533, rs3761010, rs10413889, rs3761007, rs10409474, rs3761005, rs351107, rs3761001, rs740021, rs781452480, rs371057361, rs570466264, rs1041904080, rs7250194, rs17216649, rs199720952, rs6510983, rs17223066, rs7255385, rs112639467, rs141213775, rs28591229, rs10469327, rs3834645, rs1683564, rs71335276, and rs8107095, the method comprisingintroducing to the cell a composition comprising:a CRISPR nuclease or a sequence encoding the CRISPR nuclease; anda first RNA molecule comprising a guide sequence portion having 17-30 nucleotides,wherein a complex of the CRISPR nuclease and the first RNA molecule affects a double strand break in the mutant allele of the ELANE genethe method optionally further comprising introduction of a second RNA molecule comprising a guide sequence portion capable of complexing with a CRISPR nuclease, wherein the complex of the second RNA molecule and CRISPR nuclease affects a second double strand break in the ELANE gene.

The invention relates to the use of nucleic acid sequences for regulating gene transcription and expression, said novel promoters and expression units, methods for modifying or inducing the gene transcription rate and / or expression rate, expression cassettes containing said expression units, genetically modified microorganisms having a modified or induced transcription rate and / or expression rate, and methods for producing biosynthetic products by cultivating said genetically modified microorganisms.

The invention discloses an SNP (Single Nucleotide Polymorphism) molecular marker for influencing 49-day-old chicken body weight by influencing GCNT7 gene expression and application thereof, and belongs to the fields of molecular genetics and agricultural animal breeding, the SNP molecular marker is located at the position of 12292590bp of a chicken 20 # chromosome, a reference genome version is GRCg7b, a basic group at the position has A / G polymorphism, and the SNP molecular marker can be used for identifying the chicken 49-day-old body weight. The individual with the genotype of GG or GA at the position has a higher 49-day-old body weight character than the individual with the genotype of AA. A molecular marker system which is remarkably related to the GCNT7 expression level and can be used for early prediction and selection of the 49-day-old chicken weight character is constructed, and a feasible technical path is provided for broiler chicken breeding practice.

This invention provides a method for rapidly identifying exogenous inserted sequences based on whole-genome sequencing data, comprising the following steps: sequencing data quality control, preliminary data alignment, screening of preliminary alignment results, evaluation of secondary alignment results, homology detection, preliminary insertion region detection, precise insertion site identification, assembly of inserted and flanking sequences, acquisition of genes affected by the insertion site, and primer design for the insertion site. Compared with traditional experimental detection techniques, this invention is less time-consuming, reproducible, and presents more comprehensive transgenic insertion characteristics; compared with other existing whole-genome resequencing methods, it is more accurate and intuitive, the results are easier to understand, and it is more conducive to the safety risk assessment of transgenic plants and animals, thus contributing to the development and application of transgenic or gene editing technologies.

The invention discloses a method for influencing the activity of gene telomerase through serum protein bases. The method comprises the following steps: step 1, splitting a to-be-detected cell, carrying out centrifuging and separating to obtain a telomerase-containing supernatant; 2, mixing the telomerase-containing supernatant with a telomerase substrate to generate a telomerase extension product;3, after the telomerase substrate extension reaction is completed, carrying out amplification reaction, and finally, forming a fluorescence detection signal; and 4, detecting the intensity of the fluorescence signal by using a luminoscope. According to the method for influencing the activity of the gene telomerase through the serum protein bases provided by the embodiment of the invention, the oligonucleotide single strand can be rapidly amplified under an isothermal condition by virtue of the extension reaction of the DNA polymerase with strand displacement activity and the property of recognizing and cutting the single strand in the specific double strand by virtue of the nucleases. The reaction not only has high amplification efficiency and can realize real-time and rapid detection, but also does not need accurate thermal cycle equipment.

The invention discloses an SNP (Single Nucleotide Polymorphism) molecular marker for influencing the 210-day-old laying number of chicken by influencing R3HCC1L gene expression and application thereof, and belongs to the fields of molecular genetics and agricultural animal breeding, the SNP site is located at the position of a chicken No.6 chromosome 22973843bp, the reference genome version is GRCg7b, the basic group at the position has T / C polymorphism, and the SNP molecular marker is used for identifying the laying number of the chicken at the 210-day-old laying number of the chicken at the 210-day-old laying number of the chicken at the 210-day-old laying number of the chicken at the 2973843bp. The individual with the genotype of TT or CT at the position has more egg laying number than the individual with the genotype of CC at the age of 210 days. The invention constructs the SNP molecular marker obviously related to the mRNA expression level of the R3HCC1L gene, and the SNP molecular marker can be used for prediction of the number of laying hens at the age of 210 days and molecular marker-assisted selection, thereby providing a feasible and efficient technical path for poultry breeding practice.

The invention relates to a gene diagnostic kit for chicken flavor substances and a using method thereof, which belong to the technical field of molecular biology. The kit comprises a mixture P1 of upstream and downstream primers for PCR amplification of an ADSL gene, a mixture L1 of probes for an LDR reaction of the ADSL gene, a mixture P2 of upstream and downstream primers for the PCR amplification of an A-FABP gene, a mixture L2 of probes for the LDR reaction of the A-FABP gene, Tag enzyme and DNA ligase. The genotypes of the two genes are detected by an LDR method; and the method comprisesthe following steps: performing PCR amplification on a fragment in which SNP locus is positioned; and ligase detection reaction of a PCR product. When a second exon C3484T of the ADSL gene mutates, IMP is impacted obviously, and the IMP content of a TT genotype individual is the highest and is higher than that of CC and CT obviously; and when a first exon C51T of the A-FABP gene mutates, IMF is impacted obviously, and the IMP content of the TT genotype individual is the highest and is higher than that of the CC and the CT obviously; thus a broiler individual with TTTT genotype combination hasthe highest content of the chicken flavor substances.

The application belongs to the technical field of biological medicine, and provides application of gene PTHLH as a target point in auxiliary diagnosis, prognosis judgment and treatment of esophageal squamous carcinoma. The target point PTHLH is an esophageal squamous carcinoma driving target point accumulated based on structural variation TD, that is, a potential target point of a super enhancer accumulated by TD; the super enhancer is an upstream regulation region of PTHLH. The application research finds that the enhancer region of the ESCC driving gene is frequently amplified by TD. These results suggest that the TD event can regulate the related expression of the cancer gene by affecting the gene ontology and the regulation element. Meanwhile, the esophageal squamous carcinoma driving target point accumulated based on the structural variation TD is found to be the potential target point PTHLH of the super enhancer accumulated by TD.

Methods for inactivating in a cell a mutant allele of the elastase, neutrophil expressed gene (ELANE gene) gene having a mutation associated with severe congenital neutropenia (SCN) or cyclic neutropenia (CyN) and which cell is heterozygous at one or more polymorphic sites selected from the group consisting of: rs10414837, rs3761005, rs1683564, rs9749274, rs740021, rs201048029, rs199720952, rs28591229, rs71335276, rs58082177, rs3826946, rs10413889, rs761481944, rs3761008, rs10409474, rs3761007, rs17216649, rs10469327, rs8107095, rs10424470 and rs78302854, the method comprisingintroducing to the cell a composition comprising:a CRISPR nuclease or a sequence encoding the CRISPR nuclease; anda first RNA molecule comprising a guide sequence portion having 17-20 nucleotides,wherein a complex of the CRISPR nuclease and the first RNA molecule affects a double strand break in the mutant allele of the ELANE genethe method optionally further comprising introduction of a second RNA molecule comprising a guide sequence portion capable of complexing with a CRISPR nuclease, wherein the complex of the second RNA molecule and CRISPR nuclease affects a second double strand break in the ELANE gene.

The invention belongs to the field of molecular biology and medicine, and discloses a primer, a probe group and a detection system for detecting a single nucleotide polymorphism (SNP) molecular marker related to liver cancer susceptibility and prognosis. The SNP molecular marker rs6903C / T is located in a 3 'UTR region of an MRPL34 gene, and the expression and protein level of the MRPL34 gene are influenced due to the change of m6A modification. Through screening of more than 48,000,000 SNPs of 1161 liver cancer cases and 1353 contrast cases and verification in 3157 liver cancer cases and 4795 contrast cases, the rs6903 is found to be significantly associated with the susceptibility of the liver cancer; meanwhile, through analysis of 451 liver cancer cases and 147 liver cancer cases, the rs6903 is found to be a molecular marker for prognosis of the liver cancer. The primer disclosed by the invention is used for amplifying a gene segment containing a human genome rs6903 site; the probe is used for identifying whether cytosine nucleotide at the rs6903 site in the amplified gene segment is mutated into thymine nucleotide or not; meanwhile, the invention also provides a reaction system for detecting the rs6903 site.

The invention discloses a goat-friendly site SETD5‑IN, sgRNA specifically targeting the site, its coding DNA and application. The present invention specifically discloses a sgRNA for editing the goat-friendly site SETD5-IN (SEQ ID No.1), a DNA molecule encoding the sgRNA, and a CRISPR / Cas9 targeting vector for editing the friendly site SETD5-IN and Gene editing methods. The goat-friendly site SETD5-IN of the present invention can be transferred into exogenous genes or site-specific overexpression of endogenous genes, etc., without affecting the expression of the SETD5 gene and adjacent genes, and provides a new and safe site for site-specific integration of genes. The sgRNA with high targeting efficiency and low off-target rate of the present invention can efficiently and specifically perform gene editing, and lays a foundation for studying gene functions related to important economic traits of livestock and producing transgenic animals.