Abstract: A method of detecting the metastasis of primary breast cancer to a lymph node is provided, comprising detecting, in lymph node tissue, the presence of a nucleic acid of c-myc, PIP or keratin-19. The presence of any one of these nucleic acids in lymph node tissue is associated with metastatic breast cancer. The presence of one or more of these markers in lymph node tissue or other tissue indicates that cells from the primary tumor have migrated from the breast tissue to the lymph node or other tissue. Also provided is a method of predicting the histopathologic stage of a cancer in a patient without having to perform a histopathologic analysis, comprising detecting, in lymph node tissue from the patient, the presence of a nucleic acid of c-myc, the presence of a nucleic acid of c-myc being correlated with stage I cancer as determined by histopathology.

Abstract: This invention is directed to cytochrome c.sub.551 polypeptides and polynucleotides encoding the polypeptides.

Abstract: The present invention is based at least in part on the discovery of a polymorphism in the human SR-BI gene which is genetically linked with a high body mass index. Accordingly, the invention provides diagnostic assays and kits for determining whether a subject has or is at risk of developing an abnormal body mass index, such as a high body mass.

Abstract: The present invention provides new methods, employing a nucleotide integrase, for cleaving single-stranded RNA substrates, single-stranded DNA substrates, and double- stranded DNA substrates at specific sites and for inserting a nucleic acid molecule into the cleaved substrate. One method uses a nucleotide integrase to cleave one strand of a double-stranded DNA substrate. The method comprises the steps of: providing a nucleotide integrase comprising a group II intron RNA having two hybridizing sequences that are capable of hybridizing with two intron RNA binding sequences on the one strand of the DNA substrate, and a group II-intron encoded protein which binds to a first sequence element of the substrate; and reacting the nucleotide integrase with the double-stranded DNA substrate under conditions that permit the nucleotide integrase to cleave the one strand of the DNA substrate and to insert the group II intron RNA into the cleavage site.

Abstract: The invention relates to members of the MAGE-B family of nucleic acid molecules. These molecules differ from the previously described MAGE nucleic acid molecules in that members of the MAGE-Xp family do not hybridize to the previously identified MAGE sequences. Further, the members of the MAGE-B family are found on the Xp arm of the X chromosome rather than on the Xq chromosome, as was the case with the previously identified MASGE genes.

Abstract: Detection of variable nucleotide(s) is based on primer extension and incorporation of detectable nucleoside triphosphates. By selecting the detection step primers from the region immediately adjacent to the variable nucleotide, this variation can be detected after incorporation of as few as one nucleoside triphosphate. Labelled nucleoside triphosphates matching the variable nucleotide are added and the incorporation of a label into the detection step primer is measured. The selection of the detection step primer is important to the method according to this invention and is dependent on the nucleotide sequence of interest. The detection step primers are preferably selected so as to span the region immediately toward the 3' end from the variable nucleotide to be detected. The detection step primers can also be complementary to a sequence beginning several nucleotides removed from the variable nucleotide.

Abstract: The present invention pertains to an apparatus for holding cells. The apparatus comprises a mechanism for incubating cells having a dynamically controlled closed environment in which the cells are grown, which are maintained in a desired condition and in which cells can be examined while the environment is dynamically controlled and maintained in the desired condition. The apparatus also comprises a mechanism for determining the state of the cells. The determining mechanism is in communication with the incubating mechanism. The present invention pertains to a method for holding cells. The method comprises the steps of incubating the cells in a dynamically controlled closed environment which is maintained in a desired condition and in which the cells can be examined while the environment is dynamically controlled and maintained in the desired condition. Additionally, there is the step of determining the state of the cells.

Abstract: A target analyte which may be found in a substance, such as a biological or environmental substance, is assayed by inoculating a media with a sample of the substance. The target analyte is a unique nucleotide sequence of the RNA or DNA of a suspect organism, or any nucleotide target, or a combination of nucleotide sequences thereof, which organism may be found in the substance. The media contains selected target analyte amplifiers which will result in the amplification of any target analytes which are present in the substance. The media may also contain one or more labeled analyte-specific materials (LASMs) which can migrate through the media. The nature of the media is such that it will support target analyte-copying but will not allow the target analyte to migrate extensively within the media.

Abstract: The invention concerns a reagent composition that employs at least two different terminators of a nucleic acid template-dependent primer extension reaction to determine the identity of a nucleotide base at a specific position in a nucleic acid of interest. The invention also concerns an immobilized method for determining such identification. The invention may be used to determine the presence or absence of a specific nucleotide sequence in a sample. It may also be employed in determination of genotype and in the identification of different alleles.

Abstract: This invention relates to a process for amplifying and detecting any desired specific nucleic acid sequence that exists in a nucleic acid or mixture thereof. The process comprises treating single strand RNA or separated complementary strands of DNA target with a molar excess of oligonucleotide complement pairs in which these oligonucleotide complement pairs have sequences complementary to the target, under hybridizing conditions. In one embodiment, the oligonucleotide complement pairs may have a gap of one or more bases which may be repaired (filled) by enzymes. The oligonucleotide complement pairs are joined together, forming joined, oligonucleotide product. The target/joined product hybrid nucleic acids are then denatured to single strands again, at which point both the target and the joined products can form hybrids with new oligonucleotide complement pairs. The steps of the reaction may be carried out stepwise or simultaneously and can be repeated as often as desired.

Abstract: A purified and isolated DNA sequence and the encoded mammary-specific protein, mammaglobin, are disclosed. Also disclosed are methods for the detecting breast cancer based upon the overexpression and secretion of mammaglobin by breast cancer cells. The methods detect and/or quantitate the presence of mammaglobin or the mRNA encoding mammaglobin.

Abstract: The present invention relates to means for the detection and characterization of nucleic acid sequences, as well as variations in nucleic acid sequences. The present invention also relates to methods for forming a nucleic acid cleavage structure on a target sequence and cleaving the nucleic acid cleavage structure in a site-specific manner. The 5' nuclease activity of a variety of enzymes is used to cleave the target-dependent cleavage structure, thereby indicating the presence of specific nucleic acid sequences or specific variations thereof. The present invention further relates to methods and devices for the separation of nucleic acid molecules based by charge.

Abstract: Specific mutations in the connexin-32 gene that are associated with X-linked Charcot-Marie-Tooth (CMT) disease are disclosed. Methods of diagnosing X-linked CMT disease are also disclosed. Methods include hybridization analysis, such as Southern or Northern analysis, which use hybridization of mutant connexin-32 nucleic acid probes to connexin-32 genes; direct mutation analysis by restriction digest; sequencing of the connexin-32 gene; hybridization of an allele-specific oligonucleotide with genomic DNA; or identification of mutant connexin-32 proteins. Mutant connexin-32 nucleic acid probes are also disclosed. The mutant connexin-32 nucleic acid probes have a mutation in at least one of the following codons: 13, 16, 20, 28, 29, 41, 75, 79, 80, 85, 86, 94, 106, 124, 131, 158, 161, 169, 178, 180, 189, 191, 193, 219, 220, 230, and 267.

Abstract: A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in a wild type form encodes a polypeptide implicated in hereditary sensory defect, wherein said mutated purified polynucleotide presents a mutation responsible for prelingual non-syndromic deafness selected from the group consisting of a specific deletion of at least one nucleotide.

Abstract: Disclosed are methods for detecting mammalian genes encoding proteins which can function in microorganisms, particularly yeast, to modify, complement, or suppress a genetic defect associated with an identifiable phenotypic alteration or characteristic in the microorganism. Disclosed also are mammalian DNA sequences cloned by the above method, as well as polypeptide products of the expression of the DNA sequences in procaryotic or eucaryotic host cells and antibody substances which are specifically immunoreactive with said expression products. More specifically, the present invention relates to methods for cloning mammalian genes which encode products which modify, complement or suppress a genetic defect in a biochemical pathway in which cAMP participates or in a biochemical pathway which is controlled, directly or indirectly, by a RAS-related protein, to products (RNA, proteins) encoded by the mammalian genes cloned in this manner, and to antibodies which can bind the encoded proteins.

Abstract: A method and apparatus for activating a thermo-enzyme reaction, such as a polymerase chain reaction or other temperature-sensitive transformation of biological systems are provided. Electromagnetic energy is applied to a target to produce a rapid elevation in the temperature of at least a portion of the target. The electromagnetic energy can be laser energy provided via a laser beam supplied from one or more laser sources. The laser beam can have a wavelength in the infrared range from 750 nm to mm. The source of electromagnetic energy can be used in association with a microscope and/or objective lens to irradiate microscopic targets.

Abstract: Translocations of chromosome 22 are associated with various cancers. Hybrid DNA sequences, having a portion of the Ews gene of chromosome 22 and a portion of either the Hum-Fli-1 gene of chromosome 11, the Erg gene of chromosome 21, or the Atf-1 gene of chromosome 12, are disclosed. Proteins encoded by these hybrid DNAs are disclosed. Diagnosis of specific cancers based on detection of the translocations is disclosed.

Abstract: Improvements are provided for methods for selecting in vitro compositions of matter that serve as ligands and catalysts. Also provided are novel nucleoside analogs that expand the structural diversity of oligonucleotides and their analogs.

Abstract: This invention relates to a solid phase helicase assay for identifying helicase inhibitors. The assay having a model helicase substrate adsorbed on a solid support, the model helicase substrate being an immobilized extended single-stranded nucleic acid polymer hybridized to a labeled helicase reaction product. The presence of the labeled helicase reaction product is detectable in solution on helicase activity. Also described is a method for measuring the helicase inhibiting ability of test substances thus, making the assay useful for identifying pharmaceutically important helicase inhibitors.

Abstract: The present invention provides a human tumor-associated Kazal inhibitor (TAKI) and polynucleotides which identify and encode TAKI. The invention also provides genetically engineered expression vectors and host cells comprising the nucleic acid sequences encoding TAKI and a method for producing TAKI. The invention also provides for agonists, antibodies, or antagonists specifically binding TAKI, and their use, in the prevention and treatment of intestinal diseases including cancer. Additionally, the invention provides for the use of antisense molecules to polynucleotides encoding TAKI for the treatment of diseases associated with the expression of TAKI. The invention also provides diagnostic assays which utilize the polynucleotide, or fragments or the complement thereof, and antibodies specifically binding TAKI.