Abstract: A purified, isolated and cloned DNA sequence consisting essentially of a DNA sequence (SEQ ID No:1) partially encoding the gene, designated ATM, mutations in which cause ataxia-telangiectasia and a method for detecting carriers of the defective gene which causes ataxia-telangiectasia. The method includes isolating genetic material from a cell sample of a subject and the genetic material with molecular probes complementary to SEQ ID No:1 and point mutations, deletions or insertions thereof in order to detect carriers of the mutant gene.

Abstract: The present invention relates to oligonucleotide probes useful in detecting, e.g. by hybridization or the ligase chain reaction, Chlamydia trachomatis DNA in the presence of other related DNA. The present invention is also directed to methods of detecting Chlamydia trachomatis organisms in a sample using the ligase chain reaction.

Abstract: The invention relates to acarbose biosynthesis genes from actinomycetes, predominantly from Actinoplanes sp. SE 50/110 and its mutants, to a process for the isolation of acarbose biosynthesis genes from actinomycetes using a gene probe which has been derived from highly conserved protein regions of known dTDP-glucose dehydratase enzymes for finding the genes acbA (coding for dTDP-glucose synthase), acbB (coding for dTDP-glucose dehydratase) and acbC (coding for a cyclase, in part identical to AroB, bacterial 3-dehydroquinate synthases) or one or more acarbose biosynthesis genes from Actinoplanes sp., and to the use of the acarbose biosynthesis genes.

Abstract: The invention is directed to methods and a device for detecting or measuring the amount of a cell-associated molecule in a biological fluid sample. Cell-associated molecules which can be detected or measured include, but are not limited to, cell surface antigens, intracellular cytokines, microbial antigens, pharmacological agents or their metabolites, and nucleic acids. In the preferred embodiment, a sample of whole blood is collected on filter paper and dried. A dot is punched form the dried blood spot and the analyte of interest eluted from the paper with a buffered, relatively highly concentrated detergent solution. The eluate is then assayed in a standard assay, such as an immunoassay.

Abstract: A method for detecting a target polynucleotide is provided which relies on the exponential amplification of oligonucleotide fragments. Separated populations of oligonucleotides are provided that contain complementary sequences to one another and that contain at least one scissile linkage which is cleaved whenever a perfectly matched duplex is formed containing the linkage. When a target polynucleotide contacts a first oligonucleotide cleavage occurs and a first fragment is produced which can hybridize with a second oligonucleotide. Upon such hybridization, the second oligonucleotide is cleaved releasing a second fragment that can, in turn, hybridize with a first oligonucleotide in a manner similar to that of the target polynucleotide.

Abstract: 16S ribosomal nucleic acid hybridization assay probes specific for Streptococcus pneumoniae and no other Streptococcus species.

Abstract: A method for detecting and quantitating organisms containing R-RNA, t-RNA, other RNA, any member of a large, intermediate or small category of organisms such as any member of a bacterial taxonomic Family, Genus, or Species, and previously unknown organisms. The method comprises contacting the nucleic acid of the organisms whose presence, identification and quantitation are to be determined, with a marked probe comprising nucleic acid molecules complementary to RNA or other nucleic acid sequences, of the said organism, under nucleic acid hybridization conditions, and then determining the degree of hybridization that has occurred. The method may include contacting a sample with an enzyme-detergent mixture to make the nucleic acids of the organism or virus in a sample more readily available for hybridization.

Abstract: A method for detecting and quantitating organisms containing R-RNA, t-RNA, other RNA, any member of a large, intermediate or small category of organisms such as any member of a bacterial taxonomic Family. Genus, or Species, and previously unknown organisms. The method comprises contacting the nucleic acid of the organisms whose presence, identification and quantitation are to be determined, with a marked probe comprising nucleic acid molecules complementary to RNA or other nucleic acid sequences, of the said organism, under nucleic acid hybridization conditions, and then determining the degree of hybridization that has occurred. The method may include contacting a sample with an enzyme-detergent mixture to make the nucleic acids of the organism or virus in a sample more readily available for hybridization.

Abstract: The 3'-end of BC200 RNA, commencing at nucleotide 159 has the sequence:UAAGCGUAAC UUCCCUCAAA GCAACAACCC CCCCCCCCCU UU 42?SEQ ID NO 2!Oligonucleotide probes in accordance with the invention are complementary to at least a portion of this sequence such that they bind specifically and selectively to human BC200 RNA. The probes are useful in determining the distribution of BC200 RNA in the body and as an indicator of the presence of a Alzheimer's Disease.

Abstract: A method for detecting and quantitating organisms containing R-RNA, t-RNA, other RNA, any member of a large, intermediate or small category of organisms such as any member of a bacterial taxonomic Family, Genus, or Species, and previously unknown organisms. The method comprises contacting the nucleic acid of the organisms whose presence, identification and quantitation are to be determined, with a marked probe comprising nucleic acid molecules complementary to RNA or other nucleic acid sequences, of the said organism, under nucleic acid hybridization conditions, and then determining the degree of hybridization that has occurred. The method may include contacting a sample with an enzyme-detergent mixture to make the nucleic acids of the organism or virus in a sample more readily available for hybridization.

Abstract: The invention relates to polymorphic markers (two tetranucleotide and one dinucleotide repeat polymorphisms) that are useful for human individualization. Applications are in forensic medicine and for paternity and prenatal screening as well as genetic mapping. These markers are characterized by sets of oligonucleotide primers according to the invention useful in PCR amplification and DNA segment resolution. The invention further relates to an assay for measuring the subtle differences in genetic material regarding an added or omitted set of dinucleotide or tetranucleotide repeat polymorphisms which comprises obtaining an amount of nucleotide segments effective for testing, amplifying the segments by the PCR procedure using at least one primer nucleotide sequence according to the present invention, resolving the amplified segments using gel electrophoresis, and comparing the resolved segments by autoradiography to observe the differences in migration patterns due to structural differences.

Abstract: A method for detecting and quantitating organisms containing R-RNA, t-RNA, other RNA, any member of a large, intermediate or small category of organisms such as any member of a bacterial taxonomic Family, Genus, or Species, and previously unknown organisms. The method comprises contacting the nucleic acid of the organisms whose presence, identification and quantitation are to be determined, with a marked probe comprising nucleic acid molecules complementary to RNA or other nucleic acid sequences, of the said organism, under nucleic acid hybridization conditions, and then determining the degree or hybridization that has occurred. The method may include contacting, a sample with an enzyme-detergent mixture to make the nucleic acids of the organism or virus in a sample more readily available for hybridization.

Abstract: Disclosed herein is a PCR-based assay for Mycoplasma hyopneumoniae, a species-specific primer pair for use in the assay, and a related diagnostic kit. The primer pair is made up of an oligonucleotide having the nucleotide sequence 5'-AAGTTCATTCGCGCTAGCCC-3' and an oligonucleotide having the nucleotide sequence 5'-GCTCCTACTCCATATTGCCC-3'. Preferably, the kit contains an oligonucleotide probe having the sequence 5'-GGTAGCCCTTCCTTTGAGGT-3'.

Abstract: The present invention relates generally to the fields of macromolecule image analysis and interpretation. More particularly, it concerns means for selecting an image, and using unique color vector computer automation to determine the shape, length, and physical characteristics of a stained DNA image midline based on the overall contour. The invention also includes methods of gravitationally stretching DNA to an essentially linear, 2-dimensional form having an inter kilobase pair distance of between 0.34 .mu.m to 0.65 .mu.m per kilobase pair. Examples of color images analyzed are presented and include the mapping of DIRVISH stained DNA markers, orientation, and distances. A novel use of the method allows determination of replication origin and termination sites on the DNA.

Abstract: A method and apparatus for creating a leukocyte rich sample from a mixed population of blood cells. The method comprises the steps of: separating an amount of blood into layers that include a buffy coat layer having a mixed population of blood cells including plasma and red blood cells; providing a chamber having an opening for receiving a fluid; causing the buffy coat layer to enter the chamber; centrifuging the chamber to separate the buffy coat layer into at least a plasma containing layer, a leukocyte containing layer, and a red blood cell containing layer; and separating the leukocyte containing layer from the other layers in the chamber.

Abstract: A modified bioluminescent protein responds to different physical, chemical, biochemical or biological conditions to produce light or radiation of altered characteristics when the bioluminescent reaction is initiated. The modified bioluminescent protein may respond to modification thereof, e.g. by covalent modification. The protein may include signal peptides to "target" it. DNA coding for the bioluminescent protein may be altered to include tissue specific promoter or enhancer genes so that the altered DNA acts as reporter gene.

Abstract: This invention relates to a method for identifying single base pair mismatches in nucleic acids using mismatch endonucleases and a set of labeled oligonucleotide probes which hybridize to mismatch sequences in the target nucleic acid such that a detectable enzyme-nucleic acid-probe complex forms or labeled cleaved fragments form when a base pair mismatch is present.

Abstract: This invention discloses hybridization assay probes for Mycobacterium kansasii comprised of an oligonucleotide of about 18 nucleotides. These probes hybridize to a variable region of the 23S rRNA gene of Mycobacterium kansasii. The oligonucleotide probes are complementary to the rRNA variable region of the rRNA gene. Such probe specificity offers a rapid, non-subjective method of identification and quantitation of a bacterial colony for the presence of selected rRNA sequences capable of distinguishing all strains of Mycobacterium kansasii.

Abstract: Fanconi Anemia is a human genetic disease, the precise cause of which is, to date, unknown. This invention provides an isolated human cDNA molecule which is able to specifically complement, in one type of Fanconi Anemia, (type C) the characteristic defect exhibited by cells derived from patients with Fanconi Anemia. The genomic gene from which this cDNA is derived is also provided as is the sequence of the protein encoded by this gene. Mutations in this gene are proposed to underlie Fanconi Anemia Type C. Diagnostic and therapeutic applications which derive from this work are described. The murine homolog of the human cDNA is also provided.

Abstract: Isolated CT-1, isolated DNA encoding CT-1, and recombinant or synthetic methods of preparing CT-1 are disclosed. These CT-1 molecules are shown to influence hypertrophic activity and neurological activity. Accordingly, these compounds or their antagonists may be used for treatment of heart failure, arrhythmic disorders, inotropic disorders, and neurological disorders.