96 results about "Genotyping" patented technology

This invention relates to the field of plant molecular breeding technology, specifically to a KASP molecular marker PH5-KASP based on the SNP site of the maize Zm00001eb259660 gene and its application. It provides a KASP molecular marker targeting the SNP site at 226029364 bp on maize chromosome 5, which is a functional missense mutation c.485C>T in the coding region of the Zm00001eb259660 gene. The marker consists of two allele-specific forward primers carrying different fluorescent tags and one universal reverse primer, stably distinguishing between C:C and T:T homozygous genotypes, where C:C corresponds to higher plant height and T:T corresponds to lower plant height. This invention offers high marker genotyping accuracy, simple and low-cost detection, and is suitable for large-scale breeding sample detection. It can be used for early identification of maize plant height traits, germplasm screening, and assisted breeding, significantly improving the efficiency of ideal maize plant architecture improvement.

The current invention pertains to a reliable method for determining the relative frequency of a sequence variant of interest in a nucleic acid sample derived from at least one polyploid cell, wherein the method uses a UMI to correct for any amplification biases. The invention further pertains to the use of a UMI for accurately determining the relative frequency of a sequence variant of interest in a nucleic acid sample derived from at least one polyploid cell.

This invention relates to a method for structural variant (SV) identification and genotyping in long-read family pedigree samples. The invention pertains to the field of vegetative variant (SV) detection in families, specifically focusing on methods for identifying and genotyping structural variants. The aim of this invention is to address the problems of existing family-based SV detection methods, which heavily rely on high-coverage sequencing, resulting in insufficient utilization of genetic characteristics and inaccurate SV detection and genotyping, as well as the high cost of sequencing multiple samples. This invention uses individual sequencing data from all family members as input, extracts variant features from each member, performs cluster analysis on the family feature set, assigns features to their respective members, and then uses three family feature signal correction methods to correct detection errors. Finally, SVs are located and anchored using Mendelian inheritance laws, and haplotype genotyping of SVs is completed using linkage information from long-read sequencing fragments.

A human sebaceous gland carcinoma cell line and use thereof are provided. The human sebaceous gland carcinoma cell line SHNPH-SeC was deposited in the China Center for Type Culture Collection (CCTCC) on Aug. 31, 2023, with an accession number CCTCC NO: C2023113. The human sebaceous gland carcinoma cell line SHNPH-SeC carries a TP53 mutation, and has been identified as a novel single cell line by short tandem repeat (STR) genotyping. This human sebaceous gland carcinoma cell line exhibits strong adherence and stable cellular characteristics, can be stably passaged for multiple generations, and possesses rapid proliferation and migration capabilities, which are in line with the characteristics of malignant tumor cells.

The application discloses a kind of based on molecular marker clustering analysis's cotton hybrid breeding combination screening method, the screening method includes: step S1: using multi-traits related molecular marker to the gene typing experiment of test cotton variety, data collection and arrangement are carried out;Step S2: excellent allele frequency calculation and feature matrix construction;Step S3: data standardization and principal component analysis dimension reduction;Step S4: optimal cluster number selection and genetic clustering;Step S5: each population character analysis;Step S6: heterosis potential score and combination screening.The technical problem that present cotton breeding parent selection lacks multi-traits comprehensive quantitative evaluation is solved, and the data of breeding decision-making and intelligentization are realized.

The application belongs to the technical field of molecular biology and genetic breeding, and discloses a molecular marker closely linked to a soybean seed protein content QTL qPro14 and application. A seed protein content QTL qPro14 is identified on chromosome 14 of soybean by using whole genome association analysis. A significant SNP associated with the QTL is located at the 1,360,542th base of chromosome 14 of a reference genome Glycine_max_v2.1, and can explain 0.32% of phenotypic variation. A PARMS marker developed by using the SNP is clear in genotyping and simple in operation, and is suitable for molecular breeding of soybean seed protein content.

The present application relates to the field of gene mutation detection, in particular to a gene detection reagent, kit, detection method and application for predicting susceptibility to myopia, comprising specific detection primers and / or fluorescent probes for detecting rs524952, rs148443109, rs75714645, rs7290586, rs188276693 and rs1420853 gene polymorphism detection sites. The present application also discloses a kit comprising the aforementioned reagent and a detection method. The reagent, kit and detection method of the present application can detect the aforementioned six gene sites respectively, and by determining the genotyping of the six gene sites of the patient, the risk population of myopia can be identified through analysis, and the prevention and control of myopia can be guided.

The application discloses a high-throughput KASP molecular marker significantly related to plant height of Gossypium hirsutum and application, and belongs to the technical field of cotton molecular breeding. The KASP marker is successfully developed based on cotton plant type related genes and resequencing data of germplasm resources. Through genotyping and phenotype correlation analysis in 246 natural Gossypium hirsutum populations, four KASP markers (PH-TK1-PH-TK4) significantly related to plant height in three environments are screened. The regulation effect and aggregation effect of the markers on plant height are verified in a separation population. Experiments prove that the KASP marker can be used for high-throughput and accurate genotyping of plant height in early cotton breeding, and provides an effective tool for molecular marker assisted selection of cotton ideal plant type, and helps to accelerate the breeding process of cotton varieties suitable for mechanical harvesting.

The application discloses a molecular marker, a kit and a genotype detection method for predicting high content of highly unsaturated fatty acids in mirror carp muscle, relates to the technical field of biomolecular detection, and specifically relates to a molecular marker, a kit and a genotype detection method for predicting high content of highly unsaturated fatty acids in mirror carp muscle. The molecular marker for predicting high content of highly unsaturated fatty acids in mirror carp muscle is shown as SEQ ID NO. 1. The primer pair for predicting high content of highly unsaturated fatty acids in mirror carp muscle is hufaf1 and hufar1. The genotype detection method comprises the following steps: one, extracting DNA; two, PCR amplification; and three, Sanger sequencing, and the mirror carp with a C single peak at the 75th bp is selected. The application can identify individuals with potential high content of highly unsaturated fatty acids in muscle based on living body non-damage and rapidness through the above-mentioned molecular marker, the kit and the genotype detection method, so that precise and efficient breeding of the high content of highly unsaturated fatty acids in mirror carp is realized.

The application discloses a method and a kit for constructing a high-throughput multiplex fluorescence PCR-based HLA-CREG and HPA gene typing synchronous detection system. The application is based on common specific SNP sites, and two types of different primers are combined and designed to obtain a system for HLA cross-reactive group and HPA gene typing detection, which can realize rapid, simple, low-cost and high-throughput HLA epitope and HPA gene typing detection, so as to more effectively prevent platelet transfusion invalidity and immunological platelet transfusion invalidity.

This disclosure provides automated, high-throughput methods and systems for generating microspore-derived doubled haploid structures, plantlets, and crop plants, and progeny thereof. Methods of integrating computer vision and artificial intelligence into a variety of steps including microspore selection, culture, sorting, and genotyping are disclosed. Multiplexed genome-editing of microspores through cargo delivery, non-destructive sampling, and genotyping are also described.

This invention discloses a combination of SNP molecular markers for sweet potato, an SNP chip, and their applications, relating to the fields of plant biotechnology and plant molecular breeding. The chip contains 16,730 SNP loci located on chromosome 15 of the sweet potato reference genome "Y22". This sweet potato 16K liquid-phase SNP chip, SweetpotatoGBTS16K, is applied to genotyping, variety identification, gene mapping, and genome-wide association analysis of sweet potato varieties. The SNP loci on the liquid-phase chip of this invention were screened from large-scale sweet potato genome resequencing data, totaling 16,730 SNP loci, encompassing associated loci for major agronomic traits such as yield, quality, and resistance in sweet potato, and has broad application prospects in multiple fields of sweet potato breeding.

The invention relates to methods of identifying and characterizing a Cannabis spp. plant with respect to a flowering time trait comprising genotyping the plant for a quantitative trait locus (QTL) associated with a flowering time trait, and to methods of producing plants having a flowering time trait of interest based on defined allelic states of polymorphisms defining the QTL. Also provided are Cannabis spp. plants having a flowering time trait of interest comprising defined allelic states of polymorphisms defining the QTL and plants identified, characterized or produced by the methods described herein. The invention further relates to marker assisted selection and marker assisted breeding methods, in particular using a combination of specific markers provided, for obtaining plants having a flowering time trait of interest or for modulating the flowering time of cannabis plants.

The present application relates to the field of molecular genetic technology, in particular to a KASP molecular marker TMSK23 related to eggplant reverse temperature-sensitive male sterility and application thereof. The molecular marker site is obtained by crossing 05ms as female parent and S132 as male parent, and obtaining F2 separation population. According to the published high-quality eggplant genome information, the whole genome resequencing technology is used to pool and sequence the homozygous dominant fertile plants and homozygous recessive sterile plants in the F2 generation of eggplant, and the SNP difference sites of the fertile gene and sterile gene pool are screened out, and the difference sites are verified by KASP gene typing method and protein three-dimensional structure prediction. The present application solves the problems of large workload in hybrid seed production in the prior art, avoids the problem of a large number of measurement and matching in the transgenic process, improves the breeding efficiency and has other advantages.

The present application relates to the technical field of plant breeding, and particularly relates to a rice whole genome molecular marker combination and application thereof. The molecular marker combination comprises molecular markers with sequence numbers 1-329 shown in table 1 and molecular markers with sequence numbers 1-1058 shown in table 2. The present application carries out systematic screening on functional gene and non-functional gene related SNP sites of rice, and obtains a rice whole genome molecular marker detection system, which can be applied to gene typing of plants, molecular marker assisted breeding of plants, screening or identification of rice blast resistant plant plants or germplasm resources, genetic population structure analysis, kinship evaluation, dominant gene combination selection or germplasm resource diversity evaluation of plants, plant variety identification or purity detection, kinship evaluation of plants, plant variety improvement or excellent trait introduction, and preparation of molecular breeding chips of plants, and has important value in the field of plant breeding.

A method of fetal genotyping, comprises receiving maternal genomic DNA (gDNA) data, maternal cell-free DNA (cfDNA) data, and paternal gDNA data of a pair parenting to a fetus. The data are analyzed to identify a first set of sites at which the parents are homozygous for different alleles, and a second set at which at least one of the parents has a mutation. For each site of the first set, a probability that a respective portion of the maternal cfDNA data is derived from the fetus is determined. Each site of the second set is classified according to the determined probabilities as being either fetal or maternal to genotype the fetus.

The application belongs to the technical field of molecular biology, and relates to a method for identifying a rib number trait of Rongchang pigs and application thereof. The method is performed by identifying the genotypes of SNP sites. The SNP sites correspond to the 32236778th nucleotide site on chromosome 17 in the international pig genome 11.1 version reference sequence, and the SNP sites have C / T polymorphism. The application can realize efficient and accurate genotyping of the rib number trait of Rongchang pigs, can non-invasively and quickly screen out excellent individuals with more ribs and high meat yield in the early breeding stage, significantly shortens the breeding cycle, and improves the breeding efficiency.

This invention relates to the field of nucleic acid release, specifically disclosing a rapid nucleic acid release reagent, kit, method, and application for animal tissue genotyping. The release reagent comprises a weakly alkaline reaction buffer, an enzyme-catalyzed reaction enhancer, a nonionic surfactant, a nucleic acid amplification enhancer, a first component composed of histidine, trehalose, and glutathione in a specific ratio, and a second component with a visual indicator function; a matching thermosensitive proteinase K formation kit is also included. The kit can be pre-packaged in multi-well reaction plates for improved ease of use. The release method of this invention achieves rapid release of nucleic acids from animal tissues through pre-incubation activation, mild-temperature lysis, and high-temperature enzyme inactivation steps. Simultaneously, the first component exhibits a strong synergistic effect with the thermosensitive proteinase K, effectively protecting the integrity of the nucleic acids.

The application discloses a method and application of a Cas12a sensing system based on an sgRNA blocking strategy for single nucleotide polymorphism typing. The method comprises the following steps: pre-annealing sgRNA and blocking chains to form a complex; obtaining a single-stranded DNA target by using an asymmetric recombinase polymerase amplification; constructing a detection system comprising a Cas12a protein, the complex, a target and a fluorescent substrate; activating the trans-cleavage activity of Cas12a through a strand displacement reaction to generate a fluorescent signal, so as to realize SNP typing. The method combines the sgRNA blocking strategy with the Cas12a system for the first time, does not need to depend on a PAM sequence, has the advantages of high universality, high specificity, simple operation, rapidness, low cost and the like, and is suitable for ApoE gene typing and other SNP related detection.

The application discloses a high-precision genotype reference panel of Cervus nippon and a filling method thereof, and belongs to the technical field of animal genomics. The method comprises the following steps: collecting blood samples of Cervus nippon with an age of 24 months or above, performing 5X resequencing, and obtaining genotyping data; using Beagle software to perform self-filling on the resequencing data, and generating a reference panel; using Plink software to perform quality control on the reference panel data; setting a DR 2 filtering threshold value as 0.95, filtering chip data of a target population; dividing sites into five intervals according to minor allele frequencies, and filling in sequence according to intervals. Through the specific implementable technical steps, the application solves the technical problem of poor filling effect of low-frequency variant sites in Cervus nippon genotype filling, and provides a low-cost and efficient genotyping scheme for Cervus nippon genomic breeding.

This invention relates to the field of gene polymorphism detection technology and discloses a venous thrombosis risk gene detection kit based on LAMP technology. The kit includes primers and probes for detecting polymorphic sites in venous thrombosis risk genes, detection reaction system components, reagent A and reagent B, positive control A, positive control B, and a negative control. Reagent A and reagent B respectively contain matched primers and probes and the detection reaction system components. Reagent A is a 4G, C, AAG, G, or T reaction tube, and reagent B is a corresponding 5G, T, del, A, or C reaction tube. This invention avoids interference between primers and probes by physically isolating reactions of different nucleic acid sequences in independent reagents A and B. Simultaneously, it utilizes polymerase and cresol red to convert changes in system components into color changes, achieving simultaneous visualization and accurate genotyping of multi-target amplification signals without instrument assistance.

This invention relates to the fields of molecular diagnostics and gene sequencing technology, specifically to a complete solution for high-precision genotyping of the human Lewis blood group system. The invention provides primer pairs for specifically amplifying long fragments of the Lewis blood group coding genes FUT2 and FUT3, and an optimized single amplification system; a library construction method adapted for nanopore sequencing; and a Lewis (FUT2, FUT3) genotyping method based on long-read data for haplotype analysis. This invention overcomes the detection limitations of conventional techniques, simultaneously acquiring the complete sequence and phase information of key regions of the FUT2 and FUT3 genes through a single amplification system, achieving accurate genotyping of common Lewis blood group phenotypes (Le(a+b−), Le(a−b+), Le(a−b−)) and effective identification of rare variants such as weakly expressed and deleted variants.

This invention belongs to the field of SNP site detection technology for guiding the use of second-generation antipsychotic drugs. Specifically, it relates to primer and probe combinations and applications for SNP site detection to guide personalized medication of second-generation antipsychotic drugs. The SNP site is rs17782313. The primer and probe combination includes an upstream primer SEQ ID NO:1 that specifically amplifies the wild-type T allele, an upstream primer SEQ ID NO:2 that specifically amplifies the mutant C allele, a universal downstream primer SEQ ID NO:3, a wild-type probe SEQ ID NO:4, and a mutant probe SEQ ID NO:5. This invention assesses the genetic risk of weight gain and metabolic disorders in patients with mental illness after taking second-generation antipsychotic drugs such as risperidone, quetiapine, amisulpride, and paliperidone through rapid and accurate genotyping. It features high specificity, high accuracy, speed, simplicity, and controllable cost, and can achieve rapid single-tube genotyping, providing key genetic evidence for the clinical development of personalized medication regimens.

This invention relates to the field of biomedical testing and clinical medication management technology, specifically to an antiepileptic patient medication assessment and management system based on chromatography-mass spectrometry (CMS) data. The system includes: a data acquisition module for collecting multidimensional time-series data generated by CMS in patient biosamples, and obtaining prescription dosage, administration timestamps, weight, and genotyping data; a benchmark reconstruction module for constructing an ideal pharmacokinetic benchmark based on a compartmental model and the Michaelis-Menten kinetic rules; a parameter injection module for generating a theoretically abnormal simulation state; a differential extraction module for generating a real residual vector and a theoretical residual matrix; a coupling decision module for outputting the state assessment results; and a management feedback module for generating medication reminders, dosage adjustment suggestions, medication change prompts, resampling, or manual review instructions, achieving a closed-loop connection from testing data to clinical decision-making.

This invention provides a nutritional composition rich in A2-β-casein that promotes calcium absorption, belonging to the field of functional foods. The invention obtains A2-β-casein through genotyping and purification, and then combines it with colostrum basic protein and a small amount of milk-derived calcium to form compositions with different ratios. This invention utilizes a Caco-2 cell model to study the fluorescence imaging of calcium ion influx into Caco-2 cells, the calcium absorption-promoting activity, and the absorption pathway, thereby comprehensively evaluating the calcium absorption characteristics of this composition and obtaining a nutritional composition rich in A2-β-casein that promotes calcium absorption.

The application discloses a Holstein cow breeding probe combination, a gene chip, a kit and application, the probe combination can detect 140290 SNP sites based on the reference genome ARS-UCD1.2. The site detected by the Holstein cow breeding probe combination is obtained from 77887 sites after further screening based on 4600 Holstein cow genome sequencing data, in combination with 62387 SNP sites related to yield, reproduction and body shape and 16 defect-related SNP sites, and can effectively reflect the structural heterogeneity of the genome itself. The site detected by the Holstein cow breeding probe combination has high polymorphism information content, and fully covers high polymorphism sites. Meanwhile, the interpolation accuracy is high, the genotyping consistency is equivalent to that of a high-density chip, the cost is significantly lower, and the economy is better, and the application provides an independent technical tool for efficient and accurate genome breeding of Holstein cows.

This invention discloses a tea plant liquid phase chip and its applications, belonging to the field of molecular detection technology. The invention discloses a tea plant liquid phase chip and its applications, which, based on site screening requirements and probe design principles, includes 5781 SNP sites. It can achieve genotyping of tea plant resources using precise localization sequencing and genotyping technology based on liquid phase capture of target genomic sequences. This tea plant liquid phase chip of the invention enables low-cost genotyping, primarily due to its tea plant specificity. It can facilitate tea plant variety identification and phylogenetic analysis, scientifically guide tea plant hybridization and improvement work, contribute to the protection and development of tea plant germplasm resources, and has high application value in multiple fields of tea plant breeding. The tea plant liquid phase chip of the invention can be used for tea plant genetic diversity assessment, germplasm resource and phylogenetic identification, genetic map construction and gene localization, genome-wide association analysis, and marker-assisted breeding of tea plants.

A computerized system and method are provided for assessing a number of gene-gene interactions between the HLA and IRF5 gene regions. At least one computing device enrolls subjects in a registry, including SLE patients having met classification criteria for SEE and Sjogren's patients having met AECG criteria. Moreover, at least one computing device can perform genotyping for the subjects and healthy control subjects, for submission to a genotyping platform. Further, at least one computing device can develop HLA risk factor models for each of a plurality of stages, and perform statistical analysis for each of the plurality of stages.