Copy Number Variations
Mostrando 13-24 de 46 artigos, teses e dissertações.
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13. Detecting single DNA copy number variations in complex genomes using one nanogram of starting DNA and BAC-array CGH
Comparative genomic hybridization to bacterial artificial chromosome (BAC)-arrays (array-CGH) is a highly efficient technique, allowing the simultaneous measurement of genomic DNA copy number at hundreds or thousands of loci, and the reliable detection of local one-copy-level variations. We report a genome-wide amplification method allowing the same measurem
Oxford University Press.
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14. Effects on adaptedness of variations in ribosomal DNA copy number in populations of wild barley (Hordeum vulgare ssp. spontaneum).
Twenty alleles, 12 at Mendelian locus Rrn1 and 8 at locus Rrn2, control rRNA genes [ribosomal DNA (rDNA)] variability in barley. These alleles differ strikingly in their effects on adaptedness. In the present study, we determined variation in the copy number of 101 accessions of wild barley plants from 10 ecologically diverse sites in Israel and examined rel
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15. Copy number variations and cancer
DNA copy number variations (CNVs) are an important component of genetic variation, affecting a greater fraction of the genome than single nucleotide polymorphisms (SNPs). The advent of high-resolution SNP arrays has made it possible to identify CNVs. Characterization of widespread constitutional (germline) CNVs has provided insight into their role in suscept
BioMed Central.
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16. Gyrase activity and number of copies of the gyrase B subunit gene in Haemophilus influenzae.
Gyrase activities in extracts of various strains of Haemophilus influenzae can differ by more than an order of magnitude (J. K. Setlow, E. Cabrera-Juárez, W. L. Albritton, D. Spikes, and A. Mutschler, J. Bacteriol. 164:525-534, 1985). Measurements of in vitro activity and copy number indicated that most of these differences arose from variations in the numb
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17. Quantitative analysis of chromosomal CGH in human breast tumors associates copy number abnormalities with p53 status and patient survival
We present a general method for rigorously identifying correlations between variations in large-scale molecular profiles and outcomes and apply it to chromosomal comparative genomic hybridization data from a set of 52 breast tumors. We identify two loci where copy number abnormalities are correlated with poor survival outcome (gain at 8q24 and loss at 9q13).
The National Academy of Sciences.
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18. Variant mapping of the Apo(B) AT rich minisatellite. Dependence on nucleotide sequence of the copy number variations. Instability of the non-canonical alleles.
Because of its variations in length, the AT rich Hyper-Variable Region (HVR) of the 3' end of the Apolipoprotein B gene is used as a polymorphic maker in genetic studies. It contains a SspI site in its repeated motif and we used this feature to precisely analyse the internal structure of the different alleles found at this locus in a Caucasian population. We
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19. Hypothesis: hypersensitive plasmid copy number control for ColE1.
Initiation of replication of the plasmid ColE1 is primed by the cis-acting RNA II. Copy numbers are regulated by inhibition of RNA II by the antisense RNA I, whose concentration is proportional to the plasmid concentration. This inhibition is enhanced by a protein. Rom, and takes place during a time set by the transcription of 250 bases of the gene for RNA I
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20. A multicopy plasmid of the extremely thermophilic archaeon Sulfolobus effects its transfer to recipients by mating.
A plasmid of 45 kb, designated pNOB8, was found in high copy number in a new heterotrophic Sulfolobus isolate, NOB8H2, from Japan. Dissemination of the plasmid occurred in six cultures of nine different Sulfolobus strains when small amounts of the donor were added. These mixed cultures exhibited a high average copy number of the plasmid, between 20 and 40 pe
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21. An alternative PCR assay for quantifying mitochondrial DNA in crude preparations.
A method is described for the quantification of mitochondrial DNA present in crude biological preparations. A known copy number of a standard is amplified in the presence of inactivated target DNA so as to determine the overall efficiency of the PCR process in a particular sample. In this way any inhibitory and/or stimulatory substances present in sample pre
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22. Mechanisms of Human Mitochondrial DNA Maintenance: The Determining Role of Primary Sequence and Length over Function
Although the regulation of mitochondrial DNA (mtDNA) copy number is performed by nuclear-coded factors, very little is known about the mechanisms controlling this process. We attempted to introduce nonhuman ape mtDNA into human cells harboring either no mtDNA or mutated mtDNAs (partial deletion and tRNA gene point mutation). Unexpectedly, only cells containi
The American Society for Cell Biology.
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23. Transcriptional Repressor CopR: Use of SELEX To Study the copR Operator Indicates that Evolution Was Directed at Maximal Binding Affinity
CopR is one of the two copy number control elements of the streptococcal plasmid pIP501. It represses transcription of the repR mRNA encoding the essential replication initiator protein about 10- to 20-fold by binding to its operator region upstream of the repR promoter pII. CopR binds at two consecutive sites in the major groove of the DNA that share the co
American Society for Microbiology.
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24. A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders
Recent studies and advances in high-density oligonucleotide arrays have shown that microdeletions and microduplications occur at a high frequency in the human genome, causing various genetic conditions including mental retardation. Thus far little is known about the pathways leading to this disease, and implementation of microarrays is hampered by their incr
American Society for Investigative Pathology.