32 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 invention provides an SNP molecular marker combination for paternity test and individual recognition of dairy cows and application, the SNP molecular marker combination comprises 300 SNP markers on 29 autosomes of the dairy cows, the marker combination can be applied to paternity test and individual recognition of the dairy cows, and an identification method comprises the step of preparing a liquid phase chip of the 300 SNP markers, constructing a high-throughput sequencing library by using the genome DNA of the dairy cow to be detected; mixing the liquid phase chip probe with a high-throughput sequencing library, capturing a DNA fragment containing a target SNP site in the dairy cow DNA high-throughput sequencing library, amplifying and purifying to obtain a genetic typing of a dairy cow individual to be detected, and performing paternity test inference according to the genetic typing. The invention provides a probe and a kit for identifying SNP (Single Nucleotide Polymorphism) site information. According to the invention, the SNP polymorphism is detected through targeted capture sequencing, through high-depth sequencing, the typing result is accurate and reliable, and the accuracy of paternity test and individual recognition is ensured.

The invention provides a method for detecting genes related to early growth traits of Inner Mongolia down producing goats based on copy number variation (CNV). The method comprises the following steps: acquiring whole genome re-sequencing data of 461 Inner Mongolia down producing goats; the method comprises the following steps: detecting autosomal CNV by using CNV native software, and screening out 26,003 non-redundant CNV which covers 1, 015.4 Mb (38.97%) of an autosomal genome; gWAS analysis is carried out on the basis of CNV, 11 CNVs obviously related to early growth traits (birth weight CSZ, weaning weight DRZ, daily gain ADG before weaning and 12-month-old weight ZWT) are identified, and two CNVs influence ADG and DRZ at the same time; seven key candidate genes (ZN845, SOX15, FGF11, GPS2, DVL2, SPRY4 and STAT2) are analyzed and identified through bioinformatics, and GO and KEGG function enrichment analysis is utilized to find that the genes participate in biological pathways such as cell proliferation, differentiation and protein phosphorylation. The invention provides a theoretical basis for molecular marker-assisted breeding of Inner Mongolia down producing goats, and has important scientific value and application prospect.

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.

The present application relates to a method for identifying a sex antagonistic hotspot region on a pig autosomal chromosome and application thereof. The method provided by the present application comprises the following specific steps: constructing a hybrid population F0, F1, F2 three generations, genome sequencing and SNP identification, transmission tracking of genetic material in the hybrid population pedigree, and identifying a sex antagonistic hotspot region. The method of the present application identifies that the Chr3:121M window is a sex ratio directional regulation molecular marker that is beneficial to the generation of male offspring in the Large White / Mini pig genotype individual. According to the method of the present application, the pig population sex can be predicted and regulated, and by screening and optimal mating of the genotype of the parent before mating, a plurality of generations is obtained by continuous cross without introducing exogenous blood relationship, so that the maximum value of the proportion of the genotype beneficial to the male or female is achieved under the condition that all genotypes of each generation are retained at the population level, and then the dynamic regulation of the sex ratio of the offspring pig population is achieved.

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.

The invention discloses a method for calculating the length of autosomal telomeres of a crowd. The method comprises the following steps: S1, acquiring three-generation sequencing gene long fragment data of different age groups of the crowd; s2, identifying a long fragment containing a telomere sequence; s3, comparing the long fragment data of the third-generation sequencing gene in the step S1 to a reference genome; s4, grouping in chromosome and sequence directions according to a comparison result; s5, identifying and extracting positions of telomere sequences in the same chromosome and direction; sequencing according to the front and back positions of the telomere sequence on the chromosome, and determining a minimum starting position and a maximum ending position; according to the method, the advantage of long reading length of third-generation sequencing is utilized, the whole telomere area can be directly crossed, deviation caused by reading length of second-generation sequencing is avoided, the measurement result is more accurate and reliable, the efficiency is high, and the cost is low.

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.

NIPTeR (an open-source R package that enables fast NIPT analysis), which is the most widely used non-invasive diagnosis method in the prior art, can only analyze trisomy in autosomes, and has the limitation of being unable to diagnose aneuploidies in sex chromosomes. Conversely, the present invention relates to a non-invasive prenatal testing method capable of simultaneously diagnosing numerical abnormalities (aneuploidy) of both autosomal chromosomes and sex chromosomes. The method according to the present invention has the effect of providing the same level of accuracy as amniocentesis, which is a confirmatory test used to verify NIPT, while addressing the limitation of NIPTeR (an open-source R package that enables fast NIPT analysis) of being unable to diagnose sex chromosome aneuploidies, and is thus expected to be widely used in the field of prenatal diagnosis.

The present application belongs to the technical field of biological information detection, and discloses a nuclear genome copy number variation detection method, which can identify whether the sample to be detected is a female sample. If yes, the half value of the sequencing depth value of the X chromosome site and the sequencing depth value of the autosomal site are compared with the respective confidence interval to determine the copy abnormal site, the copy number value of the copy abnormal site is calculated for spatial clustering classification, and the normal copy class and the copy variation class are obtained. The copy abnormal site belonging to the copy variation class is determined as the copy variation site. Then, the copy variation sites with adjacent positions and the same variation type are combined to obtain CNV fragments. Therefore, the present application can automatically and accurately perform CNV detection of all nuclear genome chromosomes, improve the accuracy of sex chromosome CNV detection, and improve the resolution of RD sites while ensuring the stability, accuracy and sensitivity of the CNV fragments.

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 relates to the technical field of forensic medicine, and particularly discloses a typing system containing 29 groups of X chromosome STR gene loci as well as a primer composition and application of the typing system. Through screening and evaluation, a typing system containing 29 groups of X chromosome STR gene loci is provided, and the typing system comprises 19 independent X-STRs and 47 X-STRs including 10 X-STR linkage clusters. The typing system provided by the invention can be used for further identification when the relationship between two individuals is determined to belong to a secondary genetic relationship and various genetic relationships cannot be identified by autosomal loci. Compared with the typing system of the X chromosome STR gene locus in the prior art, the typing system provided by the invention has higher accuracy, is suitable for more complicated genetic relationship identification situations, and provides more reliable evidence support for genetic relationship identification.

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.

A bioinformatic system that identifies the common ancestral origins of minimally correlated autosomal DNA (atDNA) matches is disclosed. The invention consists of three main components: The first is Axiomatic Ancestral Stratification by Kinship (AASK) a process of collating a collection of atDNA matches along ancestral family lines in order to establish a hierarchical sense of their common pedigree. The second is a set of automated scripts, formulae, and data structures to facilitate desktop correlation and tabulation utilizing AASK in conjunction with a desktop spreadsheet program such as Microsoft Excel. The third is a system of data tables and methods to facilitate AASK within a database management system (DBMS) at the enterprise level.

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.

The present invention discloses a method, apparatus, device, and medium for gender detection based on second-generation sequencing technology. The method comprises: excluding CNV mutation-prone regions and sex chromosome PAR regions from valid detection regions of second-generation sequencing to obtain a high-efficiency gender detection region; calculating the coverage depth ratio of sex chromosomes to autosomes in the high-efficiency gender detection region based on a sample sequencing data comparison file, and obtaining the sex chromosome copy number based on the coverage depth ratio; determining X chromosome heterozygosity in the high-efficiency gender detection region based on a sample sequencing data variation file; and obtaining a gender detection result based on the sex chromosome copy number and X chromosome heterozygosity based on a configuration file. Reliable and stable gender detection is achieved based on second-generation sequencing technology.

The present invention discloses a forensic genetic marker detection kit based on high-throughput sequencing and its use method. The kit contains specific amplification primers for 199 genetic markers and can simultaneously detect four types of forensic genetic markers: autosomal STRs, Y-chromosome STRs, X-chromosome STRs, and mitochondrial mtDNA hypervariable regions. Compared with existing technologies, the kit of the present invention solves the problem of being unable to simultaneously detect a large number of forensic genetic markers, including autosomal STRs, Y-chromosome STRs, X-chromosome STRs, and mitochondrial mtDNA. It increases the genetic information that can be obtained in a single test, provides more genetic information data for the identification of kinship and the detection of difficult cases, and can meet the needs of actual case inspection, DNA database construction, and paternity testing.

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 invention discloses a method for identifying sex of pandas based on short read length sequencing, and belongs to the technical field of newspaper and newspaper analysis. According to the unbiased sex determination based on the whole genome coverage, a chromosome coverage difference (CQ) method is adopted, a primer aiming at a specific site does not need to be designed in advance, high-accuracy sex determination can be realized by comparing the depth ratio of XY chromosomes to autosomes in whole genome sequencing data, the accuracy is close to 100%, and the sex determination accuracy is high. The method has application potential in sex identification of pandas.

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 present invention relates to the application of PRSS56 protein expression and enzyme activity regulation in myopia treatment. The present invention uses a method for whole-genome linkage analysis, haplotype analysis, whole-genome sequencing combined with Sanger sequencing verification to detect and verify pathogenic sites for two large families with hereditary high myopia and 236 cases of early-onset high myopia in children. Combined with the family's genetic pattern, mutant gene frequency and animal model data, it is confirmed that mutations in the upstream promoter region of the PRSS56 gene translation start c.-187G>T, c.-187G>C, c.-297C>T, c.-378G>A, c.-382C>T and c.-421G>A can lead to the occurrence of hereditary high myopia, and the mutation is an autosomal heterozygous mutation. Based on this, a hereditary high myopia screening kit and a high myopia animal model for detecting the above mutation sites are provided. The application of the animal model and the kit of the present invention can provide a scientific basis for the early diagnosis, differential diagnosis and drug treatment of hereditary high myopia, which is conducive to early prevention and treatment and improves the quality of life of patients.

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.