13 results about "Single nucleotide mutation" patented technology

The application discloses a single cell whole genome amplification sequencing method. The application comprises the following steps: 1) separating a single cell, adding a single cell lysis solution to sufficiently lyse the single cell and digest proteins combined on the genomic DNA; 2) using a Tn5 transposome with a specific adapter sequence to fragment the DNA, while adding adapters to both ends of the fragments; 3) after end repair, using a ribonuclease to cut modified ribonucleotide residues on the adapter sequence; 4) using the adapter sequence as a primer to linearly amplify the fragmented DNA by using a single primer PCR method; and 5) adding sequencing adapters to both ends of the DNA fragments by using a chain extension and PCR method to obtain a final sequencing library. The method disclosed by the application can amplify single cell whole genome DNA with high coverage, uniformity and fidelity, and simultaneously and accurately detect chromosomal copy number variation CNV and single nucleotide mutation SNV on a single cell genome.

The application provides a global ancestor estimation method and system based on principal component analysis, which comprises the following steps: based on the principal component analysis method, according to single nucleotide mutation data, projecting the principal components of the to-be-tested offspring samples and the principal components of the ancestral samples into the same two-dimensional plane, and dividing the projected two-dimensional plane into multiple corresponding population regions; fitting the population region of each ancestral sample to obtain an ancestral population fitting region, and obtaining the region density of each ancestral population fitting region; extending each ancestral population fitting region outward at the same proportion, stopping the outward extension when any ancestral population fitting region contains a to-be-tested offspring sample, and obtaining the ancestral population proportion of the current to-be-tested offspring sample according to the region area after the extension and the region density. The application directly calculates the proportion of the corresponding ancestor in the offspring individual or population through the principal component analysis result, and has high accuracy.

The invention relates to the technical field of plant molecular breeding and molecular biology, in particular to a KASP molecular marker related to soybean mosaic virus resistance and application of the KASP molecular marker. The molecular marker is targeted to an anti-soybean mosaic virus specific functional SNP (Single Nucleotide Polymorphism) site of a soybean GmLMM4 gene; the SNP locus is c.743Cgt of a soybean GmLMM4 gene coding region, and the SNP locus is a nucleotide sequence of the soybean GmLMM4 gene; the GmLMM4 gene is mutated by a T mononucleotide, and the 248th amino acid of the GmLMM4 gene coding protein is changed into isoleucine from threonine through the mutation. The molecular marking tool provided by the invention has the advantages that the accuracy of anti-SMV breeding can be remarkably improved, the matched primer group is designed in a targeted antisense strand, and the C / C, C / T and T / T genotypes can be accurately distinguished by FAM / HEX fluorescence signals and correspond to soybean anti-SMV phenotypes; high-throughput detection is completed in the seedling stage, the screening efficiency of high-resistance materials is improved, the identification period is shortened, and the screening efficiency of soybean anti-SMV breeding is improved.

This invention relates to a GmSPL3b gene SNP marker and its application, belonging to the fields of plant molecular biology and crop genetics and breeding technology. The SNP marker is used for molecular detection of soybean flowering and maturity stages. The SNP is a single nucleotide mutation at position 94 and / or position 116 of the first exon of the soybean GmSPL3b gene, forming a nucleotide sequence as shown in SEQ ID NO. 1 and / or SEQ ID NO. 2; the polymorphism of the single nucleotide mutation is A / G polymorphism. This invention enables precise genotyping at the seedling stage, efficiently breeding early-maturing soybean varieties adapted to high-latitude regions. It can directly serve as a precise target for gene editing, providing a clear basis for molecular design breeding. It allows for rapid screening of ideal genotypes in early generations, reducing field workload, shortening the breeding cycle, and accelerating the selection of new varieties.

The application relates to a mutant type of an INSIG1 gene for regulating fat deposition of animals and application thereof, wherein the mutation is located at the 3725th base of a nucleotide sequence shown in SEQ ID NO. 1, and is an A>G single nucleotide mutation. The application analyzes the genetic basis of fat deposition of animals by using comparative genomics, finds that a strictly conserved site of an INSIG1 gene corresponds to parallel replacement of histidine to arginine of amino acids, and the potential function of the strictly conserved site in fat deposition and mobilization is prompted.

The present disclosure relates to an apparatus and a method for providing information for diagnosing micro-residual diseases through quantification of single-nucleotide variants in cfDNA. The apparatus according to the present disclosure comprises: a memory in which at least one process for performing an operation for providing information for diagnosing micro-residual diseases is stored; and a processor for performing an operation according to the process, wherein the processor analyzes WGS of patient-derived cancer tissues using two or more pieces of somatic variant analysis software to obtain data on the positions of consensus single-nucleotide variants commonly identified in primary cancer samples, matches reference sequences at the positions of the single-nucleotide variants with cfDNA WGS of the patient to obtain supporting reads matching in which the variants match in overlapping regions of paired reads, filters the obtained supporting reads on the basis of predetermined conditions, and generates probability data related to micro-residual diseases on the basis of the filtered supporting reads.

The application relates to a WEE1 gene molecular marker related to pig carcass oblique length and application thereof, relates to the technical field of molecular genetic markers, and aims to provide a SNP molecular marker related to pig carcass oblique length and application thereof, and to apply the same in genotype identification, genetic breeding and the like, and aims to screen a molecular marker related to pig carcass oblique length. The SNP molecular marker of the application is a nucleotide sequence shown as SEQ ID NO. 1 formed by single nucleotide mutation of the 616th base of the WEE1 gene; the polymorphism of the single nucleotide mutation is T / G polymorphism. The application is used for breeding / assisting breeding of pig varieties or strains related to pig carcass oblique length. The application identifies the pig carcass oblique length by judging the polymorphism of the mutation site of the pig WEE1 gene promoter region, and applies the mutation site as early selection, so as to provide a new idea for improving the pork yield of pigs. The application has important breeding significance for improving the pork yield of pigs.

The invention belongs to the technical field of animal genetic breeding, and provides application of an SNP molecular marker associated with a pig backfat thickness character. The nucleotide sequence of the molecular marker is as shown in SEQ ID NO: 7, wherein the polymorphism of the 88th basic group is T / C. The method comprises the following steps: performing deep sequencing on individual genomes with different backfat thicknesses of large white pigs, and finding that mononucleotide mutation Tgt exists at the 88th basic group of the 15th exon of the GLB1 gene; and C, inter-group difference exists. According to the present invention, the pig population is further expanded, the genome DNA is subjected to PCR amplification sequencing, the mutation site typing is performed, the correlation analysis with the corrected 100 kg backfat thickness of the large white pig is performed, and the correlation with the pig backfat thickness is determined, such that the reference data can be provided for the molecular marker-assisted breeding of the large white pig, and the continuous requirement of the large-scale production on the efficient feed energy utilization can be easily met.

The invention discloses application of an HSPB7 gene molecular marker related to pig skeletal muscle development, relates to the technical field of molecular genetic markers, and particularly relates to application of the HSPB7 gene molecular marker in breeding / assisted breeding of pig varieties or strains with pig skeletal muscle development. The HSPB7 gene molecular marker is a nucleotide sequence as shown in SEQ ID NO.1, which is formed by single nucleotide mutation of a 3'UTR (Untranslated Region) region + 54-site basic group of an HSPB7 gene; the polymorphism of the single nucleotide mutation is shown as G / T polymorphism. Experiments show that the activity of the HSPB7 3 'UTR region is remarkably improved by T-G mutation of the + 54 site of the 3' UTR region of the pig HSPB7 gene in an in-vitro test, and the difference between the T-G mutation and the activity of the HSPB7 3 'UTR region is remarkable, so that the method for detecting the molecular marker associated with the mutation is simple, convenient and rapid, is not influenced by the environment, and can realize early-stage seed selection.

The application provides a model for identifying allele imbalance markers driving tumor evolution based on a hierarchical Bayesian framework and a construction method thereof, and belongs to the field of information technology.The application provides a construction method of a model for identifying allele imbalance markers driving tumor evolution based on a hierarchical Bayesian framework, a three-level Bayesian hierarchical model is constructed, global noise, subclone specificity, regional discreteness and allele single nucleotide mutation (SNV) site observation are jointly modeled, and a reparameterization correction allele copy number deviation is introduced.On this basis, a Markov Monte Carlo (MCMC) sampling is used to obtain a posterior distribution of parameters, and a sample comparison method of a posterior distribution probability of each parameter including a true allele imbalance coefficient and a Kullback-Leibler divergence is provided, which can be used for identifying allele imbalance and analyzing markers driving evolution.

The invention discloses a promoter pTCP17 for regulating and controlling the number of grains per ear of rice and application of the promoter pTCP17. In particular discloses a DNA (deoxyribonucleic acid) molecule with a nucleotide sequence of SEQ ID No.1 and application of the DNA molecule as a promoter. The invention further discloses application of the promoter and related biological materials thereof in regulation and control of the grain number per ear of rice. The DNA molecule (SEQ ID No.1) provided by the invention has the function of a promoter, and mononucleotide mutation in a DNA sequence of the DNA molecule specifically regulates the expression quantity of a target gene in a panicle, and is specifically expressed in a rice stem base and a young panicle. The invention has important theoretical and practical significance on research of a rice grain number regulation molecular mechanism and rice molecular breeding, the rice quality is improved through rice grain number improvement molecular breeding, different requirements of consumers can be met, the competitiveness of products in the market is improved, and the application prospect is wide. Wide application and market prospects are realized in the agricultural field.

The invention discloses an engineered Cas13d protein and application of the engineered Cas13d protein in CRISPR (clustered regularly interspaced short palindromic repeats) detection. Specifically, the invention provides an engineered Cas13d protein fused with an RNA binding domain, the engineered Cas13d protein comprises: (a) a Cas13d protein, the amino acid sequence of the Cas13d protein is shown as SEQ ID NO: 1, and (b) a Cas13d protein, the amino acid sequence of the Cas13d protein is shown as SEQ ID NO: 2; (b) at least one heterologous RNA binding domain (RBD); wherein the at least one heterologous RNA binding domain is inserted into a site selected from the group consisting of N-terminus, C-terminus, N47 site, Y119 site, or a combination thereof, of the Cas13d protein. The engineered Cas13d protein disclosed by the invention has a stable mutation detection capability during single nucleotide mutation detection.

The invention discloses application of a DLD gene molecular marker related to pig myoblast differentiation, relates to the technical field of molecular genetic markers, and particularly relates to application of the DLD gene molecular marker in breeding / auxiliary breeding of pig varieties or strains with pig myoblast differentiation. The DLD gene molecular marker is a nucleotide sequence as shown in SEQ ID NO.1, which is formed by single nucleotide mutation of a basic group at the-143rd site of a DLD gene promoter; the polymorphism of the single nucleotide mutation is A / C polymorphism. Experiments show that the activity of the DLD promoter is remarkably improved by mutation of the pig DLD gene promoter region-143 site A to C in an in-vitro test, and the difference between the mutation and the activity is remarkable, so that the method for detecting the molecular marker associated with mutation is simple, convenient and rapid, is not influenced by the environment, and can realize early-stage seed selection.