摘要:
The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also related to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.
摘要:
New genetic markers for the presence of a mutation in the common hereditary hemochromatosis (HH) gene are disclosed. The multiplicity of markers permits definition of genotypes characteristic of carriers and homozygotes containing this mutation in their genomic DNA.
摘要:
New genetic markers for the presence of a mutation in the common hereditary hemochromatosis (HH) gene are disclosed. The multiplicity of markers permits definition of genotypes characteristic of carriers and homozygotes containing this mutation in their genomic DNA.
摘要:
The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also related to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.
摘要:
Methods of selection of nucleic acids using solution hybridization, methods of sequencing nucleic acids including such selection methods, and products for use in the methods are disclosed.
摘要:
The present invention describes compositions and methods showing that the spatial proximity of intracellular components may be related to their ability to cooperate in intracellular biochemical reactions. In some embodiments, the present invention contemplates a variety of nucleic acid barcoded binding partners capable of determining the spatial proximity of intracellular components as determined by ligation of their respective nucleotide barcodes. As such, an intracellular component contact map may be constructed to fingerprint specific physiological and/or pharmacological intracellular conditions.
摘要:
The present invention describes compositions and methods showing that the spatial proximity of intracellular components may be related to their ability to cooperate in intracellular biochemical reactions. In some embodiments, the present invention contemplates a variety of nucleic acid barcoded binding partners capable of determining the spatial proximity of intracellular components as determined by ligation of their respective nucleotide barcodes. As such, an intracellular component contact map may be constructed to fingerprint specific physiological and/or pharmacological intracellular conditions.
摘要:
The disclosed Hi-C protocol can identify genomic loci that are spatially co-located in vivo. These spatial co-locations may include, but are not limited to, intrachromosomal interactions and/or interchromosomal interactions. Hi-C techniques may be applied to many different scales of interest. For example, on a large scale, Hi-C techniques can be used to identify long-range interactions between distant genomic loci.
摘要:
The invention relates to a method of preparing and using a library of template polynucleotides suitable for use as templates in solid-phase nucleic acid amplification and sequencing reactions to determine the methylation status of the cytosine bases in the library. In particular, the invention relates to a method of preparing and analysing a library of template polynucleotides suitable for methylation analysis.
摘要:
The present invention is related to genomic nucleotide sequencing. In particular, the invention describes a paired end sequencing method that improves the yield of long-distance genomic read pairs by constructing long-insert clone libraries (i.e., for example, a fosIll library or a fosCN library) and converting the long-insert clone library using inverse polymerase chain reaction amplification or shearing and recircularization of shortened fragments into a library of co-ligated clone-insert ends. The resultant jumping libraries are compatible with massively parallel sequencing techniques. The compositions and methods disclosed herein contemplate sequencing complex genomes as well as detecting chromosomal structural rearrangements.