4 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.

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 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.