摘要:
The invention generally relates to methods for detecting fetal nucleic acids and methods for diagnosing fetal abnormalities. In certain embodiments, the invention provides methods for determining whether fetal nucleic acid is present in a maternal sample including obtaining a maternal sample suspected to include fetal nucleic acids, and performing a sequencing reaction on the sample to determine presence of at least a portion of a Y chromosome in the sample, thereby determining that fetal nucleic acid is present in the sample. In other embodiments, the invention provides methods for quantitative or qualitative analysis to detect fetal nucleic acid in a maternal sample, regardless of the ability to detect the Y chromosome, particularly for samples including normal nucleic acids from a female fetus.
摘要:
The invention generally relates to methods for detecting fetal nucleic acids and methods for diagnosing fetal abnormalities. In certain embodiments, the invention provides methods for determining whether fetal nucleic acid is present in a maternal sample including obtaining a maternal sample suspected to include fetal nucleic acids, and performing a sequencing reaction on the sample to determine presence of at least a portion of a Y chromosome in the sample, thereby determining that fetal nucleic acid is present in the sample. In other embodiments, the invention provides methods for quantitative or qualitative analysis to detect fetal nucleic acid in a maternal sample, regardless of the ability to detect the Y chromosome, particularly for samples including normal nucleic acids from a female fetus.
摘要:
The invention provides methods and compositions for sequencing DNA or RNA samples that would be impossible to do via standard means. Samples that are part of mixtures or are degraded or modified may be sequenced so that the individual from whom the sample originated can be determined or useful biological information can be associated with the sample. Methods are described that allow high efficiency sequencing of degraded nucleic acid samples such as are typically found with FFPE. Samples from severely degraded sources or that have been treated with preservatives such as formalin may be sequenced. In addition to permitting identification of samples, information about disease or treatment status may also be determined.
摘要:
The invention generally relates to polymerases for efficient and controlled sequencing-by-synthesis reactions. In certain embodiments, the invention provides a polymerase enzyme including at least one mutation that enhances ability of the polymerase as compared to a wild-type polymerase to incorporate a nucleotide into a nascent strand of DNA or cDNA including at least one modified nucleotide.
摘要:
Correlations between polymorphisms and metabolic syndrome, insulin resistance, obesity, high blood pressure, dyslipidemia, diabetes and/or myocardial infarction are provided. Methods of diagnosing and treating metabolic syndrome, insulin resistance, obesity, high blood pressure, dyslipidemia, diabetes and/or myocardial infarction are provided. Systems and kits for diagnosis and treatment of metabolic syndrome, insulin resistance, obesity, high blood pressure, dyslipidemia, diabetes and/or myocardial infarction are provided.
摘要:
A mechanism for varying the power of a telescopic gun sight wherein the erector lenses are moved longitudinally of the sight. A cam sleeve is used in combination with plastic cam followers. Screws are passed through the cam followers and threaded into the erector lens cells to bias runners formed on the lens cells against the inside surface of the erector lens tube thereby loosening manufacturing tolerance requirements while providing smoother and more accurate lens movement and power change.
摘要:
The invention provides genetically-modified non-human mammals and genetically-modified animal cells containing a disrupted RAMP1, RAMP2, or RAMP3 gene. Also provided by the invention are methods of screening for agents that modulate the activity or expression of a RAMP and methods of treating mammals to modulate liver function and/or muscle metabolism.
摘要:
A line of sight adjustment mechanism for an optical gun sight which includes windage and elevation screws which bear against an internal component of the sight that defines the line of sight of the sight. A spring biases the internal component against the windage and elevation screws. Hardened steel balls are set into the internal component and affixed thereto at approximate positions to provide point contact between the internal component and the windage and elevation screws, and between the internal component and the spring. Adjustment friction is thus reduced with a resultant reduction in tracking error.
摘要:
A composite reverse osmosis membrane having a semipermeable bilayer polyamide composition comprising a base layer containing a rigid crosslinked aromatic polyamide and a top layer containing a flexible aliphatic polyamide is disclosed, the two layers in combination providing reduced salt passage in reverse osmosis desalination of brackish waters and of seawater.
摘要:
The invention generally relates to methods for sequencing a plurality of nucleic acids from different samples. In certain embodiments, methods of the invention provide contacting a nucleic acid duplex including a primer nucleic acid hybridized to a template nucleic acid with a polymerase enzyme in the presence of a first detectably labeled nucleotide under conditions that permit the polymerase to add nucleotides to the primer in a template-dependent manner, in which a unique oligonucleotide sequence is attached to the template nucleic acid so that the template nucleic acid may be differentiated from other template nucleic acid molecules, detecting a signal from the incorporated labeled nucleotide, and sequentially repeating the contacting and detecting steps at least once, wherein sequential detection of incorporated labeled nucleotide determines the sequence of the nucleic acid.