61 results about "Epigenetic biomarkers" patented technology

The present application discloses an epigenetic marker for colon cancer.

The present invention provides, inter alia, a method for generating a genome-wide epigenomic map, comprising a correlation between methylation variable CpG positions (MVP) and genomic DNA sample types. MVP are those CpG positions that show a variable quantitative level of methylation between sample types. Particular genomic regions of interest (ROI) provide preferred marker sequences that comprise multiple, and preferably proximate MVP, and that have novel utility for distinguishing sample types. The epigenic maps have broad utility, for example, in identifying sample types, or for distinguishing between and among sample types. In a preferred embodiment the epigenomic map is based on methylation variable regions (MVP) within the major histocompatibility complex (MHC), and has utility, for example, in identifying the cell or tissue source of a genomic DNA sample, or for distinguishing one or more particular cell or tissue types among other cell or tissue types. Analysis of epigenetic characteristics of one, or of a set of nucleic acid sequences, in the context of an inventive epigenomic map, allows for the determination of an origin of the nucleic acids.

The invention provides methods and materials that use observation of DNA characteristics to obtain information relating to the age of individuals. The instant disclosure identifies 88 sites in or near 80 genes for which the degree of cytosine methylation in epithelial and/or white blood cells is significantly correlated with age. In illustrative embodiments of the invention, cytosine methylation patterns the promoters of the EDARADD, TOMILI, and NPTX2 genes are used to predict the age of an individual with a high degree of accuracy.

The present invention relates to a method for the detection of the methylation status of a nucleotide at a predetermined position in a nucleic acid molecule comprising the steps of (a) treating a sample comprising said nucleic acid molecule or consisting of said nucleic acid molecule in an aqueous solution with an agent suitable for the conversion of said nucleotide if present in (i) methylated form; or (ii) non-methylated form to pair with a nucleotide normally not pairing with said nucleotide prior to conversion; (b) amplifying said nucleic acid molecule treated with said agent; (c) real-time sequencing said amplified nucleic acid molecule; and (d) detecting whether said nucleotide is formerly methylated or not methylated in said predetermined position in the sample. The invention further relates to a method for the diagnosis of a pathological condition or the predisposition for a pathological condition comprising detection of a methylation status nucleotide at a predetermined position in a nucleic acid molecule comprising the steps of (a) treating a sample comprising said nucleic acid molecule or consisting of said nucleic acid molecule in an aqueous solution with an agent suitable for the conversion of said nucleotide if present in (i) methylated form; or (ii) non-methylated form to pair with a nucleotide normally not pairing with said nucleotide prior to conversion; (b) amplifying said nucleic acid molecule treated with said agent; (c) real-time sequencing said amplified nucleic acid molecule; and (d) detecting whether said nucleotide is formerly methylated or not methylated in said predetermined position in the sample wherein a methylated or not methylated nucleotide is indicative of a pathological condition or the predisposition for said pathological condition.

A method of screening for genetic or epigenetic markers associated with autism or related disorders comprises the steps of providing a biological sample from a mammal; and testing the sample or genetic material isolated from the sample for genetic polymorphisms/mutations and/or epigenetic alterations. The polymorphism may be located in the Xq/Yq pseudoautosomal gene region and extends into the adjacent Xq28 gene region.

The present invention relates to methods for diagnostic or prognostic assay for cancer based on analysis of altered methylation status at specific CpG dinucleotide sequences within the epigenetic marker, NBL2. The methods of the invention comprise determining the methylation status of a subregion of genomic CpG dinucleotide sequences within the DNA repeat, NBL2, in a sample of a subject and comparing the methylation status of the genomic CpG dinucleotide sequences in the sample to the methylation status of the genomic CpG dinucleotide sequences in a reference, wherein a difference in the methylation status of the genomic CpG dinucleotide sequences in the sample as compared to the reference indicates an association of the subject with cancer or cancer progression. The invention further relates to genomic DNA sequences that exhibit altered CpG methylation status in disease state as compared to normal state. The invention also provides nucleic acids, nucleic acid arrays and kits useful for practicing the methods of the present invention.

The present application discloses an epigenetic marker for lung cancer.

The present invention provides methods of detection, including early detection, for cancer or other diseases and normal physiologic processes mediated by global epigenetic changes, by using one or more of the following biomarkers: a global DNA methylation index, a global histone H4 acetylation index, and a global histone H4 trimethylation index. These methods are useful for, among other things, assessing the effectiveness of treatment, monitoring relapse, and clinical staging of cancer and other chronic as well as acute diseases. These methods are also useful for among other things monitoring the effectiveness of strategies and therapies used to modify lifestyle and contextual effects to prevent disease, foster wellness and enable health promotion.

The invention features methods of diagnosing cancer in a mammal (e.g., a human) by detecting a biomarker selected from a satellite II ribonucleic acid (RNA) molecule, a cancer-associated polycomb group (CAP) body, a cancer-associated satellite transcript (CAST) body, and UbH2A. Also featured is a method for identifying an agent for treating cancer in a mammal by contacting a cancer cell having a biomarker selected from a CAP body, a CAST body, and a satellite II RNA molecule with a test agent and determining whether the test agent reduces the level of the biomarker in the cancer cell. Other inventions featured are a method for determining whether a chemotherapeutic agent increases epigenetic imbalance of a cell and a method for detecting epigenetic imbalance by determining a copy number of a satellite II DNA locus at chromosome 1q12 in a cell.

Provided herein are methods and devices for single object detection. The methods and devices can be used to identify a plurality epigenetic markers on a genetic material, or a chromatin, encompassing fragments thereof. The invention provides for the characterization of the genetic material flowing through a channel in a continuous body of fluid based on detection of one or more properties of the genetic material. The methods and systems provided herein allow genome-wide, high-throughput epigenetic analysis and overcome a variety of limitations common to bulk analysis techniques.

The present invention relates to a method, in particular an in vitro method, for identifying CD3CD4 positive T lymphocytes of a mammal, wherein said method comprises analysing the methylation status of at least one CpG position in the CD3a/b/c/d/g genes, in particular their “upstream” regulatory regions, and in particular the promoter and other conserved regions of the gene cd3, wherein a demethylation of at least one CpG in the analyzed sample to at least 90% is indicative for memory and naive CD4 or/and memory and/or native T lymphocytes. Furthermore, the present invention is directed at the use of DNA-methylation analysis of the genes CD3a/b/c/d for the detection and quality assurance and control of T lymphocytes. Furthermore, the present invention relates to a kit for performing the above methods as well as respective uses thereof. In a preferred embodiment, the present invention furthermore provides an improved method for analysing the methylation status of at least one CpG position in the gene CD3, allowing for a precise analysis even from sub-optimal quality samples, such as non-freshly obtained blood or serum samples.

The present invention provides a method of identifying one or more epigenetic markers associated with psychosis-associated diseases such as bipolar disease or schizophrenia, the method comprising a) obtaining a first group of samples comprising genomic DNA from a plurality of bipolar or schizophrenic subjects and a second group of samples comprising genomic DNA from a plurality of control subjects; b) performing DNA methylation analysis to determine methylation differences in one or more DNA regions between the first group and second group of samples, wherein a methylation difference in a DNA region is indicative of an epigenetic marker associated with bipolar disease or schizophrenia. The invention also provides one or more epigenetic markers associated with psychosis-associated diseases such as bipolar disease or schizophrenia.

The present invention relates to methods and biomarkers (e.g., epigenetic biomarkers) for detection of gastrointestinal cancers (e.g., colorectal cancer, gastric cancer, pancreatic cancer, liver cancer, cancer of the gall bladder and/or bile ducts (e.g., cholangiocarcinoma)) in biological samples (e.g., tissue samples, stool samples, blood samples, plasma samples, cell samples, gall samples, bile samples, serum samples).

The invention relates to a plateau adaptability detection model training method and an adaptability recognition method and device, and the model training method comprises the steps: obtaining a firstsample biological sample set, and obtaining a first sample methylation expression profile of each sample biological sample in the first sample biological sample set through an epigenetics sequencing method; and training a deep neural network based on the first sample methylation expression profile to obtain a plateau adaptability detection model. The method comprises the following steps: a deep neural network is trained through epigenetic markers of a first sample biological sample set to obtain a plateau adaptability detection model; the methylation expression profile of the biological sampleto be identified is identified by using the plateau adaptability detection model so as to obtain the plateau adaptability identification result of the biological sample to be identified, such that the important significance is provided for predicting and preventing plateau hypoxic diseases.

Epigenetic methods for assessing pluripotentcy of a cell population, such as a stem cell culture are provided. For example, pluripotency can be assessed by determining DNA methylation status at the RAB25, NANOG, PTPN6, MGMT, GBP3 and/or LYST gene regions. Kits and reagents for testing cells are likewise provided.

The invention includes compositions comprising a S. cerevisiae yeast library, and methods of identifying an epigenetic marker for the diagnosis of infertility or a disorder associated with gametogenesis in an individual.

The invention discloses application of GAD67 and an epigenetic mark thereof which serve as early markers of fetal-original bipolar affective disorder susceptibility, and belongs to the field of gene functions and application. Research results show that in hippocampi and white blood cells of fetal rats in a pregnancy ethanol exposure group, compared with a normal control group, the methylation level of a GAD67 promoter region is significantly reduced, and the gene expression of the GAD67 promoter region is improved; after growing up, the rats in the xenobiotic exposure group show high hypothalamic-pituitary-adrenal (HPA) axis stress sensibility and bipolar affective disorder susceptibility under the condition of chronic unpredictable stress. Therefore, risks that offspring have bipolar affective disorder after growing up can be judged by detecting the epigenetic modification and expression levels of the GAD67 genes in the white blood cells of fetal blood/umbilical cord blood. Research bases are provided for an early warning technology of the fetal-original bipolar affective disorder, and meanwhile, possibilities are provided for effectively treating the fetal-original bipolar affective disorder in early stages.

The present invention relates to a method, in particular an in vitro method, for identifying CD3CD4 positive T lymphocytes of a mammal, wherein said method comprises analyzing the bisulfite convertibility of at least one CpG position in the CD3⁺CD4⁺ T helper cell specific non-methylated bisulfite convertible region according to SEQ ID No. 1, wherein a bisulfite convertibility of at least one CpG position to at least 90%, preferably to at least 91% and more preferably to at least 92% and most preferred to at least 95% in said sample is indicative for a CD4⁺ T-lymphocyte cell, in particular a CD3⁺ CD4⁺ T-lymphocyte cell. The present invention further relates to analyzing the bisulfite convertibility of at least one CpG position in the genes FLJ00060, FLJ38379, PPP6C, CD226, ZBTB7B and TNFAIP8 that are capable of positively identifying CD4 expressing cells in whole blood and segregate between CD4 and CD8 positive CD3 positive cells. Furthermore, the present invention relates to a kit for performing the above methods as well as respective uses thereof.

Pap smears and HPV infection tests do not distinguish between lesions that will progress to an invasive carcinoma and those that will not. We aimed to identify epigenetic biomarkers for diagnosis and progression monitoring of premalignant lesions in cervical cancer. Hypermethylated genes were identified as potential biomarkers after validation by MSP, including GGTLA4 and ZNF516. The methylation frequency for these two genes was higher in tumor: GGTLA4 (100%) and ZNF516 (96%); than in normal samples: GGTLA4 (12%) and ZNF516 (16%). The methylation status of GGTLA4 showed a progression in methylation frequency from normal samples to invasive carcinoma. The immunohistochemical expression was lower in tumor for both: GGTLA4 (50.8%) and ZNF516 (66.2%); than in normal samples: GGTLA4 (71.2%) and ZNF516 (88.1%) (p<0.05). In conclusion, we identified methylation biomarkers for the molecular screening and characterization of cervical cancer.

Methods for determining if a patient has, or is at risk of having, and autism spectrum disorder by detecting epigenetic changes in the genome of the patient. For example, a method can comprise determining the methylation status of one or more genes in a blood sample.

Aspects of the subject disclosure may include, for example, an apparatus comprising: a membrane with a first side, a second side, and a pore that extends through the membrane; a processing system including a processor; and a memory that stores executable instructions that, when executed by the processing system, facilitate performance of operations, the operations comprising: electronic sensing of an electrical characteristic associated with a translocation of a test DNA through the pore, resulting in a sensed electrical characteristic; comparing the sensed electrical characteristic with a plurality of reference electrical characteristics, wherein each of the plurality of reference electrical characteristics is associated with a respective one of a plurality of reference features, and wherein the comparing results in a comparison result; and determining, based upon the comparison result, with which of the plurality of reference features a feature of the test DNA corresponds. Additional embodiments are disclosed.

The present invention relates to a method, in particular an in vitro method, for identifying CD3CD4 positive T lymphocytes of a mammal, wherein said method comprises analysing the methylation status of at least one CpG position in the CD3a/b/c/d/g genes, in particular their “upstream” regulatory regions, and in particular the promoter and other conserved regions of the gene cd3, wherein a demethylation of at least one CpG in the analyzed sample to at least 90% is indicative for memory and naive CD4 or/and memory and/or naïve T lymphocytes. Furthermore, the present invention is directed at the use of DNA-methylation analysis of the genes CD3a/b/c/d for the detection and quality assurance and control of T lymphocytes. Furthermore, the present invention relates to a kit for performing the above methods as well as respective uses thereof. In a preferred embodiment, the present invention furthermore provides an improved method for analysing the methylation status of at least one CpG position in the gene CD3, allowing for a precise analysis even from sub-optimal quality samples, such as non-freshly obtained blood or serum samples.