19 results about "Autosome" patented technology

Compositions, methods, kits, systems, and software are provided for non-invasive prenatal testing for autosomal recessive diseases. Next generation sequencing is used to sequence maternal and fetal DNA isolated from maternal plasma by probe capture. The fetal fraction of the sequencing reads for DNA isolated from maternal plasma is estimated by counting single nucleotide polymorphisms (SNPs) for which an allele is detected that is present in the paternal haplotype but absent in the maternal haplotype, based on the assumption that SNPs having a paternal allele belong to the fetal DNA. The fetal fraction is bioinformatically enriched by excluding sequencing reads over a specified length via in-silico size selection, which increases fetal genotype prediction accuracy. Parental haplotype information together with the read ratios observed at the linked SNPs is used to predict the fetal genotype at a site of a mutation linked to the autosomal recessive disease.

The application relates to the technical field of gene detection, and particularly discloses a kit for human autosomal miniSTR typing and application thereof. The kit comprises 10 pairs of STR primer groups for amplifying 10 miniSTR loci, and the 10 miniSTR loci are D3S1358, D21S11, D18S51, D7S820, D15S131, D15S12, D15S146, D16S539, D5S818 and TPOX. The kit can successfully perform STR typing on highly degraded DNA samples, and can be used as a supplement of traditional STR reagents.

The application discloses a human DNA sample quantitative amplification system and application thereof, and the amplification system comprises a primer and probe compound for specifically amplifying four target sequences; wherein the four target sequences are two autosomal target genes CSF1PO and TPOX, one Y chromosome target gene SRY and one non-human synthetic oligonucleotide IPC. Advantages are as follows: (1) the amplification system and the kit thereof can be applied to all forensic DNA analysis, four different target genes can be simultaneously amplified in one tube, human total DNA and human male DNA can be quantitatively and qualitatively evaluated, and information about sample degradation and inhibitor condition is provided. The primer and probe are high in specificity and sensitivity, and the minimum detection limit can reach 1 pg level. (2) the kit effectively simplifies the steps of qPCR reaction operation, improves the accuracy and precision of the test, and is suitable for all collected sample sources in forensic DNA analysis.

This invention provides a method for identifying catfish ( Silurus asotus This invention discloses a specific molecular marker for sex identification. The molecular marker is a DNA fragment located on the Y chromosome of catfish, and its nucleotide sequence is shown in SEQ ID No. 3. A DNA fragment partially homologous to this fragment is located on chromosome 8, and its nucleotide sequence is shown in SEQ ID No. 4. This invention is the first to screen male-specific fragments from catfish genome information and design specific primers for genetic sex identification of catfish. The genetic sex PCR identification method based on this molecular marker is applicable to genetic sex identification and screening of catfish at different growth stages and in different populations in different watersheds in the field, in laboratories, or in aquaculture enterprises. Since female catfish grow faster than males, applying this method to assist in the production of all-female fry helps improve the efficiency of aquaculture.

This invention belongs to the field of animal molecular genetics and breeding technology, specifically relating to SNP molecular marker combinations for identifying kinship in Sunite Mongolian cattle and their applications. The marker combination consists of 141 highly polymorphic SNP loci distributed on bovine autosomes 1-29, with an average physical distance of 19.93 Mb between loci, exhibiting good genome coverage and locus independence. The selected SNP loci show high minimum allele frequency (MAF), expected heterozygosity (He), and polymorphism information content (PIC) in the Sunite Mongolian cattle population, with average values ​​of 0.4843, 0.4990, and 0.3745, respectively, and a cumulative exclusion probability of no less than 0.9999 under unknown maternal genotype conditions. The SNP molecular marker combination and its application method of this invention can provide a reliable molecular tool for the protection of Sunite Mongolian cattle germplasm resources, the construction of conservation populations, the selection of breeding bulls and cows, and the development of the Sunite Mongolian beef cattle industry, offering advantages such as ease of operation, moderate cost, and high accuracy.

The invention is applicable to the technical field of molecular breeding and gene detection technologies, and provides a Haiford cattle 5K low-density SNP chip and application thereof.The chip comprises liquid phase capture probes corresponding to 5001 SNP loci, the SNP loci are evenly distributed on 29 autosomes of Haiford cattle, and the liquid phase capture probes correspond to the 5001 SNP loci. Variety characteristic sites, 63 important economic character related QTL sites and cattle mandibular osteogenesis related causal sites are covered. The length of the liquid-phase capture probe is 120bp, the 5'end is modified by a biotin group, and the requirements that the GC content is 20-80%, the Tm value is 60-80 DEG C and the like are met. The chip is low in detection cost, the site detection rate is 100%, the chip can be used for Haiford cattle variety purity identification, genetic relationship analysis, economic character related molecular marker detection and genetic defect causal site detection, and an effective technical means is provided for variety identification, inbreeding risk assessment and economic character molecule auxiliary selection in the Haiford cattle breeding process.

A bioinformatic system that differentiates collections of shared autosomal DNA (atDNA) matches is disclosed. The invention consists of two main parts: a process which can differentiate “Favourable” Trios of individuals from “Unfavourable” Trios, whilst doing so in a computationally efficient manner, compatible with real-time reporting of DNA testing results; and a desktop / spreadsheet prototype which performs a bioinformatic assessment of three individuals using the matches from their DNA test results by utilizing the aforementioned process. The process may also be applied to assess larger (n-element) collections of individuals, to verify the integrity of datasets produced by other bioinformatic processes, to validate collections of DNA matches used as inputs to bioinformatic processes, and to assess the integrity of ancestral lines connecting individuals of unknown or uncertain pedigree within the context of established family groupings.

This invention provides a method for detecting genome-wide ROH based on ultra-low depth sequencing. The method first acquires the raw PGT-A sequencing data of the sample, extracts high-frequency SNP loci from the population, and screens out loci on autosomes with sequencing depths of 2-4X to construct a locus set. Then, the heterozygosity index (HetRR) and its standard score (Z) are calculated. Based on thresholds, the results are judged as follows: HetRR < 0.1 and Z ≤ -3.0 indicates genome-wide ROH; 0.1 ≤ HetRR < 0.5 and Z ≤ -3.0 indicates ROH chimerism; HetRR ≥ 1.05 and Z ≥ 3.0 suggests triploidy or DNA contamination; the rest are normal. This method can utilize sequencing data as low as 0.01X and can be simultaneously detected in the routine PGT-A process without additional operations or costs, improving the accuracy of embryo screening and possessing high clinical application value.

An agent for treating a common form of autosomal dominant retinitis pigmentosa (ADRP) is disclosed, wherein the agent comprises a first nucleotide sequence encoding a CRISPR-associated (Cas) endonuclease which binds to an NG or NNGRRT PAM (protospacer adjacent motif) sequence, and a second nucleotide sequence encoding or comprising a guide RNA (gRNA) capable of forming a CRISPR-Cas complex with said Cas endonuclease, wherein the gRNA is specifically targeted to a target mutant allele selected from RHOP23H and NR2E3G56R.

The application discloses a TECTA gene mutant and application thereof, and relates to the technical field of molecular biology. The nucleotide of the TECTA gene mutant has a c.235G>C mutation relative to the nucleotide of a wild type TECTA gene, and the encoded protein has a p.Val79Leu mutation relative to the protein expressed by the wild type TECTA gene. The application also provides application of a primer pair for detecting the TECTA gene mutant in preparation of a DFNA8 / 12 pathogenic gene diagnostic reagent or a DFNA8 / 12 pathogenic gene diagnostic kit. The TECTA mutant gene provided by the application is a pathogenic variation of autosomal dominant deafness 8 / 12, and the diagnostic reagent or the kit can be used for genetic deafness screening, has important clinical application value for filling the blank of the prior art and promoting precise diagnosis and treatment of TECTA related genetic deafness.

The invention provides a guiding method and system for detecting animal inbreeding level based on a whole genome sequencing method, and belongs to the field of genomics and molecular biology. The problem that errors are large when ROH detection is carried out on low-quality data is solved. The method comprises the following steps: acquiring real reference genome data and whole genome sequencing data, and performing preprocessing, namely screening autosomes without base deletion sequences to construct a new reference genome, calculating real inbreeding level parameters and generating a haplotype genome file; the simulation whole genome sequencing data set comprises a sequencing depth gradient distribution data set, a read length gradient distribution data set and a reference genome continuity gradient distribution data set; respectively carrying out homozygous fragment detection by using the simulated whole genome sequencing data set so as to evaluate the influence of data quality parameters on the detection accuracy; and optimizing homozygous fragment detection software parameters based on an evaluation result. The method is used in the field of inbreeding evaluation of endangered species and small populations.

The invention relates to the technical field of gene detection, and particularly discloses a kit for human autosomal miniSTR typing and application of the kit. The kit comprises 10 pairs of STR (short tandem repeat) primer groups used for amplifying 10 mini STR gene loci, wherein the 10 mini STR gene loci are D3S1358, D21S11, D18S51, D7S820, D15S131, D15S12, D15S146, D16S539, D5S818 and TPOX (total polyoxin X). The kit disclosed by the invention can be used for successfully performing STR typing on a highly degraded DNA sample and can be used as a supplement of a traditional STR reagent.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is characterized by hundreds of fluid filled cysts that form in the kidney, resulting in kidney failure. Cysts form when the PKDl gene is inactivated. The present disclosure has found a specific target for therapy, an alternative DNA structure called G4 DNA in the PKDl gene is responsible for cyst formation. G4 DNA is a targetable structure, so the present disclosure provides specific nucleic acid inhibitors of G4 formation, and G4 structure destabilization, thereby blocking G4 DNA and cyst formation in at risk individuals for developing polycystic kidney disease, for example, ADPKD.

This invention relates to the field of biotechnology, specifically to a MiniSTR fluorescent multiplex amplification system and kit containing 18 short tandem repeat sequences. It discloses primer sequences targeting 17 autosomal STR loci and 1 sex locus. The core PCR products of these specific amplification primers are all less than 300 bp, increasing the number of loci detected in degraded samples. This system offers advantages such as speed, high sensitivity, and adaptability for detecting trace amounts or degraded samples, making it suitable for highly degraded or inhibitory samples.

Provided are a nucleic acid library construction method and an application thereof in the analysis of an abnormal chromosomal structure of a preimplantation embryo. Enzymatic cleavage is performed by means of combining a first endonuclease and a second endonuclease to capture a DNA sequence within a fixed fragment range. The specific sequences captured are then sequenced. When the average genome sequencing depth is greater than or equal to 3×, an SNP analysis can be performed in the entire range of the genome in order to perform detection of balanced translocation of the embryo and the like by means of a linkage analysis of a family-line sample.

The application relates to the field of forensic identification, and discloses a microhaplotype genetic marker system for mixed stain inspection and a method and application thereof. The system contains 135 microhaplotype sites of autosomes and corresponding amplification primers, and a microhaplotype typing system based on MPS technology is constructed, which has good sensitivity, specificity and inhibitor tolerance. Further combined with a microfluidic chip, automatic capture and whole genome amplification of single cells are realized, and the average locus detection rate of single cell samples reaches 83.48% in cooperation with a short fragment microhaplotype marker system, and individual sources in complex mixed stains can be accurately distinguished. The system can be widely applied to scenes such as individual identification, kinship identification and mixed stain analysis in forensic science.

The invention discloses a genetic marker composition of human microhaplotypes, a kit and application of the genetic marker composition. The human micro-haplotype genetic marker composition is composed of 358 nucleic acid fragments with the length of 60-400 bp and specifically comprises 353 micro-haplotypes on 21 autosomes, AmelX and AmelY micro-haplotypes of Amelogenin gene loci and 3 micro-haplotypes of Yindel gene loci, and the information of the micro-haplotypes is shown in a table 1. The genetic marker composition disclosed by the invention can be used for simultaneously analyzing 353 micro-haplotype genetic markers, has the advantages of high group individual recognition rate, rich polymorphism and good stability, and also can be used for assisting sex identification. The genetic marker composition can be used for forensic identification, individual identification and genetic relationship identification, has the advantages of being large in number of sites, high in sensitivity, accurate in result, wide in applicability and the like, and can be used for complex mixed DNA analysis and degradation or trace sample detection.

The application provides a primer group, a kit and application for individual rapid identification, and relates to the technical field of biology.The application provides application of human chromosome InDel loci in individual identification, 25 autosomal InDel loci are selected by the inventor, combined with Amel to form 26-plex InDels, the system meets Hardy-Weinberg balance and is in linkage equilibrium state among the loci, the cumulative individual identification rate of the 26-plex InDels system is 0.999 999 999 970 783, the requirement of individual identification is met, and the system can be used for individual identification.The primer group provided by the application has high specificity and sensitivity, and can realize amplification of the above-mentioned 26 InDel loci.The probe provided by the application can specifically capture the amplification product of the primer group.The gene chip provided by the application has high specificity, high sensitivity, good stability and reliable data.