34 results about "Chromosomal region" patented technology

To provide proteins for enhancing proliferation and / or healing and / or inhibiting apoptosis of non-transformed tissue or non-transformed cells.SOLUTION: The present invention provides proteins comprising amino acid sequences encoded by nucleic acids derived from a human chromosomal region C19Orf10 termed Factor 1 and / or C19Orf63 termed Factor 2, or inhibitors thereof. Further provided is use of inhibitors of Factor 1 and Factor 2 for medical use, preferably for use in treating or preventing a disease in which angiogenesis contributes to disease development or progression.SELECTED DRAWING: None

Size-band analysis is used to determine whether a chromosomal region exhibits a copy number aberration or an epigenetic alteration. Multiple size ranges may be analyzed instead of focusing on specific sizes. By using multiple size ranges instead of specific sizes, methods may analyze more sequence reads and may be able to determine whether a chromosomal region exhibits a copy number aberration even when clinically-relevant DNA may be a low fraction of the biological sample. Using multiple ranges may allow for the use of all sequence reads from a genomic region, rather than a selected subset of reads in the genomic region. The accuracy of analysis may be increased with higher sensitivity at similar or higher specificity. Analysis may include fewer sequencing reads to achieve the same accuracy, resulting in a more efficient process.

This invention relates to compositions and methods for modulating gene expression, e.g., allele-specific gene expression, and to DNA sequences that can be integrated into targeted genomic locations (e.g., introns, exons, non-coding regions) within or near one or more alleles and confer reduced expression of said allele(s). Targeted alleles include, but are not limited to, gene sequences, translocated sequences, fully or partially duplicated sequences, and integrated viral-derived sequences.

Disclosed are methods for determining copy number variation (CNV) known or suspected to be associated with a variety of medical conditions, including syndromes related to CNV of subchromosomal regions. In some embodiments, methods are provided for determining CNV of fetuses using maternal samples comprising maternal and fetal cell free DNA. Some embodiments disclosed herein provide methods to improve the sensitivity and / or specificity of sequence data analysis by removing within-sample GC-content bias. In some embodiments, removal of within-sample GC-content bias is based on sequence data corrected for systematic variation common across unaffected training samples. In some embodiments, syndrome related biases in sample data are also removed to increase signal to noise ratio. Also disclosed are systems for evaluation of CNV of sequences of interest.

An aberration in a fetal genome can be identified by analyzing a sample of fetal and maternal DNA. Classifications of whether an aberration (amplification or deletion) exists in a subchromosomal region are determined using count-based and size-based methods. The count classification and the size classification can be used in combination to determine whether only the fetus or only the mother, or both, have the aberration in the subchromosomal region, thereby avoiding false positives when the mother has the aberration and the fetus does not.

An aberration in a fetal genome can be identified by analyzing a sample of fetal and maternal DNA. Classifications of whether an aberration (amplification or deletion) exists in a subchromosomal region are determined using count-based and size-based methods. The count classification and the size classification can be used in combination to determine whether only the fetus or only the mother, or both, have the aberration in the subchromosomal region, thereby avoiding false positives when the mother has the aberration and the fetus does not.

The application discloses an InDel-SNP molecular marker linked with a pepper style color character and application, the InDel marker is located in the region of the 10th chromosome Chr10:184898109-184898257 of a pepper 'CM334' v1.55 reference genome, and is named Marker149; the SNP marker is a Chr10:184898202 site; if the Chr10 does not contain the Marker149, or contains the Marker149 and the base of the Chr10:184898202 site is C, a pepper style white is identified; if the Chr10 contains the Marker149 and the base of the Chr10:184898202 site is T, a pepper style purple is identified. The molecular marker can be used to identify the style color of the pepper at an early growth stage, and the accuracy can reach 100%.

The invention relates to the technical field of pancreatic cancer SNP sites. The invention provides an SNP (Single Nucleotide Polymorphism) site related to pancreatic cancer susceptibility and application of the SNP site. The SNP site is rs11102484. A genetic variation (eQTL) map influencing gene expression is systematically drawn in a whole genome range by integrating multiple omics data such as a genome and a transcriptome, 82 potential pathogenic sites are further identified in combination with pancreatic cancer GWAS data of multiple people, and the expression abundance of 15 functional genes is regulated and controlled. Wherein the genetic variation with the highest comprehensive function score is rs11102484 located in a chromosome 1p13.2 region, and multi-population case contrast research proves that the mutation of the locus C > G can significantly reduce the onset risk of pancreatic cancer. The invention discloses a new mechanism of pancreatic cancer genetic susceptibility, deepens understanding of pancreatic cancer pathogenesis, and provides a certain scientific basis for individualized prevention of pancreatic cancer.

The present invention relates to a tomato plant comprising in its genome a QTL which confers improved resistance to the tomato brown wrinkle fruit virus relative to a corresponding plant lacking said QTL, wherein the QTL is introgressed from the berry tomato gene and is found on chromosome 9 within a chromosomal region defined by SNP TO-0201220 (SEQ ID NO.1) and a SNP with SEQ ID NO:101, or on chromosome 11 within a chromosomal region defined by markers with SEQ ID NOs:102 and 115. The QTL may be selected from those present in the genome of the plant of seed LVSTBRFVRES2NCIMB deposit number 43591. The QTL is preferably characterized by defined alleles of different SNPs on chromosome 9 or 11. The present invention also relates to parts and progeny of these plants having improved resistance, to use these plants to introgress improved resistance in another genetic background, and to different methods for obtaining tomato plants or seeds having enhanced foliage and / or fruit resistance to tomato brown wrinkle fruit virus.

The present invention discloses a kit for detecting aneuploidy changes in the AZF region of the Y chromosome based on a multiplex PCR method, and relates to the field of gene detection technology. The present invention provides a method and a kit for detecting sperm disomy rate and minor copy number changes of Y chromosome aneuploidy using multiplex PCR, with a detection sensitivity of about 1% and a detection lower limit of 5%, which is higher than the current industry sensitivity level of 20% to 30%. The method and kit disclosed in this patent can predict the clinical outcomes of subsequent auxiliary diagnosis by detecting minor changes in sperm aneuploidy, and avoid fertility risks in advance. The technology disclosed in the present invention achieves the detection purpose that cannot be achieved by current conventional technologies, and the disclosed technical parameters exceed the technical indicators of current conventional technologies by 4-30 times, which is extremely innovative.

This invention provides molecular markers, typing primers and their applications for the restoration of cytoplasmic male sterility in chili pepper. Wild-type and mutant chili pepper materials were used to construct an F2 population, and the chromosomal region closely linked to the cytoplasmic male sterility restoration gene in chili pepper was obtained using the BSA population positioning method. A KASP molecular marker was designed based on a single base mutation, and this marker was used to identify the genotypes of 1290 plants in the F2 population, with a match rate of 100%. This invention is not only useful for the selection and assisted breeding of chili pepper for cytoplasmic male sterility, but also provides a basis for the mapping of the cytoplasmic male sterility restoration gene and the analysis of the molecular mechanism of cytoplasmic male sterility, and has widespread value.

An RNA interference-based product and method for inhibiting the expression of the double homeobox 4 (DUX4) gene on human chromosome 4q35 are disclosed. The invention comprises the silencing of the Cas13 protein of RNA, wherein Cas13 is specifically targeted to a DUX4 region of interest using a sequence-specific guide RNA (gRNA). The recombinant adeno-associated virus of the invention is constructed with a Cas13 direct repeat sequence and delivers DNA encoding an inhibitory gRNA that knocks down DUX4 expression. The method is applicable to the treatment of muscular dystrophy, including but not limited to facial-scapulohumeral muscle dystrophy (FSHD), and other disorders, including cancer, associated with elevated DUX4 expression.

This invention belongs to the field of molecular genetics and shellfish genome engineering, and particularly relates to a safe harbor region of the oyster genome for stable integration of exogenous genes and a screening method. The safe harbor region is a region for stable integration and expression of exogenous genes, located in different chromosomal regions of the oyster genome, in a non-open chromatin state, and meeting the following conditions: (1) the region is located on chromosomes and scaffolds, and has no coding genes / lncRNAs; (2) the region has no ATAC-seq signal; (3) the region length is 5.25–14.84 kb; (4) the average methylation level of the region is 0–0.161765; (5) the PAM (NGG) density of the region is 38.68–81.35 PAM / kb. This invention provides a reproducible and scalable general technical platform for the stable expression of oyster gene knock-in fragments and the study of their gene function.

The present invention provides systems, instruments, and methods for determining genetic or molecular distortions in a biological sample from an organism. Biological samples including free DNA fragments are analyzed to identify imbalances present in chromosomal regions, e.g., due to tumor chromosome deletion and / or amplification. Multiple loci are used for analysis of individual chromosomal regions. Such imbalances can then be used to diagnose (screen) cancer as well as prognosis of cancer patients, or to detect a patient's pre-exacerbation health status or to monitor changes in a patient's pre-exacerbation health status. Diagnosis, screening, prognosis, and monitoring can be provided using the severity of genomic imbalances, as well as the number of regions of imbalance. Systematic analysis of non-overlapping chromosome segments can provide a universal cancer screening means. Furthermore, the patient can be examined at different points in time to track one or more chromosomal regions and the severity of each of the numerous chromosomal regions and the number of chromosomal regions exhibiting chromosomal aberrations, therefore, cancer screening, prognosis diagnosis and lesion process monitoring (for example, after treatment) can be carried out.

A method for analyzing chromosomal regions and chromosomal interactions associated with prognosis of prostate cancer or DLBCL.

A method for analyzing chromosomal regions and chromosomal interactions associated with prognosis of prostate cancer or DLBCL.

The application discloses a methylation marker combination of esophageal cancer and application, a kit, a system, a model construction method and a nucleic acid fragment combination. The methylation marker combination of the esophageal cancer comprises at least 10 regions in 37 chromosomal regions defined by Hg38 coordinates. The methylation marker combination of the esophageal cancer provided by the application has high sensitivity to the esophageal cancer, and can be used for early screening of esophageal cancer risk and screening of the esophageal cancer.

The invention provides improved methods, compositions, and kits for detecting ploidy of chromosome regions, e.g. for detecting cancer or a chromosomal abnormality in a gestating fetus. The methods can utilize a set of more than 200 SNPs that are found within haploblocks and can include analyzing a series of target chromosomal regions related to cancer or a chromosomal abnormality in a gestating fetus. Finally the method may use knowledge about chromosome crossover locations or a best fit algorithm for the analysis. The compositions may comprise more than 200 primers located within haplotype blocks known to show CNV.

The invention relates to the technical field of plant breeding, and provides a corn molecular marker-assisted backcross breeding electronic simulation method and system.The method comprises the steps that whole genome molecular marker data showing newborn characters are collected for a first set of single plants carrying known target genes; collecting whole genome molecular marker data of the donor parent of the known target gene; collecting whole genome molecular marker data of a receptor parent of a known target gene; deducing one or more candidate chromosome regions by analyzing chromosome segments commonly inherited from a donor parent in a first group of single plant genomes based on all whole genome molecular marker data; selecting a representative molecular marker from the candidate chromosome region as a proxy target; and taking the proxy target and the whole genome molecular marker data of the first group of single plants as selection targets, carrying out electronic simulation of subsequent backcross breeding, and outputting an electronic simulation result. The method has the effects of improving the breeding efficiency and the decision-making scientificity.

The invention belongs to the technical field of pepper planting, and discloses a pepper fruit shape gene CaFS1, a KASP molecular marker linked to the gene and corresponding primers, wherein the KASP molecular marker is a single nucleotide polymorphism at the 14853470th base on pepper chromosome 10, where a base C to T substitution occurs. Also disclosed is a method of using whole genome association analysis and mixed pool separation analysis population positioning to obtain a chromosome region closely linked to pepper fruit shape, and developing a molecular marker within the candidate interval to determine the candidate gene CaFS1, and screening a KASP molecular marker based on the base mutation of the candidate gene, and using the marker to perform genotype identification on 90 randomly sampled individual plants of the F2 population, with a compliance rate of 100%. The result is not only helpful for pepper fruit shape identification and auxiliary breeding, but also lays a foundation for map-based cloning of fruit shape genes and analysis of the molecular mechanism of pepper fruit shape changes.

The present disclosure provides methylation markers of advanced adenoma or colorectal cancer. In various embodiments, the present disclosure provides methods for detection of advanced adenoma or colorectal cancer by analysis of one or more methylation biomarkers in cell-free DNA of a subject suspected of having colorectal cancer and / or advanced adenoma. The markers include the following genes or chromosomal regions: ALK, VAV3, EGR4, COL23A1, NKX2-5, GATA5, AC022905.1, ASB18, RN7SKP211, MIR124-3, LONRF2 and AC139713.2 / FREM3.

The present invention provides systems, instruments and methods for determining genetic or molecular aberrations in biological samples from an organism. Biological samples, including cell-free DNA fragments, are analyzed to identify imbalances present in chromosomal regions, for example, due to tumor chromosomal deletions and / or amplifications. Multiple loci are used for the analysis of each chromosomal region. Such imbalances can then be used to diagnose (screen for) cancer and to prognose cancer patients, or to detect or monitor changes in a patient's health status prior to deterioration. Diagnoses, screens, prognoses and monitoring can be provided using the severity of genomic imbalances and the number of imbalanced regions. Systematic analysis of non-overlapping chromosomal segments can provide a general cancer screening approach. Furthermore, a patient can be tested at different time points to track the severity of each of one or more chromosomal regions and the number of chromosomal regions exhibiting chromosomal aberrations, thereby enabling screening, prognosing and monitoring of cancer progression (e.g., following treatment).

The present application relates to the technical field of plant molecular breeding, and particularly relates to an indel marker PH-03-Indel-106 related to the plant height trait of corn and application thereof. The indel marker is located in the region of the 3rd chromosome of corn Chr3:163962052-163964052, is a 7bp insertion / deletion polymorphism marker, the 7bp insertion sequence CTGAGGG exists in the tall inbred line of corn, and the insertion sequence does not exist in the short inbred line of corn. The specific primer pair PH-03-Indel-106F / R can specifically amplify the target region, and through 1.5% agarose gel electrophoresis detection, the 270bp band is determined as the short haplotype, and no band is the tall haplotype. The marker can be used for molecular marker assisted selection, breeding improvement and early identification and screening of the plant height trait of corn. The phenotype can be accurately predicted through DNA detection in the seedling stage, and environmental interference is avoided. The present application has the advantages of high specificity, simple detection, low cost, high throughput and the like, can significantly shorten the breeding period, realizes directional improvement of the plant height trait, and has important significance for genetic selection and plant type optimization of corn varieties.

This invention relates to the field of gene testing data compression technology, and discloses an intelligent compression processing method for gene testing data. This invention divides compression blocks by genetic marker names, sample identifiers, chromosomal regions, or gene functional regions as boundaries, assigns an independent compression context to each block, and blocks do not share any compression dictionary or encoding state. A global index mapping table containing exclusion marker bits is established, and a writable marker area physically separated from the data area and index area is defined at the end of the compressed file. Operation records are linked into an immutable chain structure using the national cryptographic SM3 hash chain. This invention can also dynamically select the compression method based on population genetic parameters and perform Mendelian genetic tests during the compression stage to force lossless compression of genetically inconsistent sites. This invention achieves on-demand decompression at the business semantic granularity, balancing storage efficiency and data accuracy, and meeting the requirements of immutability of original data for forensic identification and judicial auditing.

The invention relates to methods for tumor marker analysis comprising providing a genomic DNA sample from tumor cells of a patient, preselecting a chromosomal region on the genomic DNA comprising at least part of a potential structural variant (SV); and sequencing the genomic region to characterize the potential SV. The invention further relates to methods for detecting minimal residual disease, monitoring treatment response and tumor progression in a patient by employing the SV, and to personalized therapy based on the identity of the SV.

The present invention relates to a blood cell-free DNA-based method for predicting prognosis of breast cancer treatment and, more particularly, to a cell-free DNA-based method for predicting prognosis of breast cancer treatment, the method comprising a step of extracting cell-free DNA (cfDNA) from a biological sample before anticancer treatment, acquiring sequence information, then obtaining an I-score by using normalization correction and regression analysis of chromosomal regions, and analyzing the I-score and image information of the breast together after the anticancer treatment. A method for predicting prognosis of breast cancer, according to the present invention, uses next generation sequencing (NGS) so as to increase the accuracy of predicting the prognosis of a breast cancer patient and also increase the accuracy of prognosis prediction based on a very low concentration cell-free DNA of which detection has been difficult, thereby increasing the commercial utilization thereof. Therefore, the method of the present invention is useful in determining the prognosis of a breast cancer patient.

The invention belongs to the technical field of plant molecular breeding, and discloses a peanut seed kernel aspergillus flavus infection resistance and toxin production resistance combined resistance type molecular marker, the molecular marker is located in peanut B06 chromosome 143, 931, 017-143, 931 and 345 regions, and the molecular marker comprises a nucleotide sequence shown as SEQ ID NO: 5. The invention further discloses a primer pair and a kit for detecting the molecular marker and application of the primer pair and the kit. According to the molecular marker disclosed by the invention, by positioning the facultative-resistant major QTL sites (qAFRB06.1) in regions 143, 931, 017-143, 931 and 345 of a peanut B06 chromosome, the developed molecular marker can synchronously identify the infection resistance and the toxin production resistance of the aspergillus flavus, so that the technical defect that a single resistance marker cannot provide comprehensive screening in the prior art is overcome; and the molecular marker synergistically enables the breeding material to still inhibit toxin generation under extreme conditions of seed coat damage and the like.

Centromere nucleating sequences and DNA constructs comprising the sequences for stable mitotic and meiotic segregation in cells are disclosed. The centromere nucleating sequences facilitate the establishment of centromeres essential for the accurate distribution of genetic material during cell division. This approach addresses the challenge of creating functional chromosomal regions without prior function, overcoming epigenetic barriers. The disclosure includes methods for utilizing the centromere nucleating sequences to create stable genetic constructs capable of proper segregation.

The invention belongs to the field of molecular genetic breeding science of crops, and particularly relates to a sclerotiniose-resistant qSCL2.3 as well as a molecular marker closely linked with the same and application of the molecular marker. The anti-sclerotinia sclerotiorum qSCL2.3 is 0.82 Mb located in the area of the second chromosome (Chr02: 122250375-Chr02: 1223469901) of the sunflower, and the anti-sclerotinia sclerotiorum qSCL2.3 can be used for preventing sclerotinia sclerotiorum The molecular marker closely linked with the sclerotiniose-resistant QTL is a nucleotide sequence amplified from sunflower total DNA by using a primer combination SEQ ID NO: 2 and SEQ ID NO: 3, whether a sunflower sample to be detected carries sclerotiniose-resistant qSCL2.3 or not can be accurately judged through CAPs molecular marker detection, and the breeding process of sunflower sclerotiniose-resistant breeding is accelerated.

The present invention belongs to the field of medical detection, and discloses a primer set, a kit and a system for rapid diagnosis of PWS / AS. The present invention uses MS-PCR in combination with NGS sequencing technology to detect the methylation level of the SNRPN gene in the 15q11.2-q13 region of chromosome 15. The detection method can be used for rapid molecular diagnosis of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) epigenetic inheritance. The method is easy to operate, has low detection cost, good detection result accuracy, high detection sensitivity and specificity, and high detection throughput, which is suitable for clinical promotion and application. The detection results of this method can accurately distinguish the abnormal methylation level of the chromosome region 15q11.2-q13, can be used for rapid auxiliary diagnosis of PWS syndrome and AS syndrome, and is suitable for clinical rapid diagnosis applications.