Technology
The treatment of chromosomes to reveal characteristic patterns of horizontal bands. The banding patterns lend each chromosome a distinctive appearance so the 22 pairs of human non-sex chromosomes and the X and Y chromosomes can be identified and distinguished without ambiguity. Banding also permits the recognition of chromosome deletions (lost segments), chromosome duplications (surplus segments) and other types of structural rearrangements of chromosomes.
Diagnostic Methods
Technology
A physical mapping approach that uses fluorescent tags to detect hybridization of probes within metaphase chromosomes or less condensed somatic interphase chromatin. This technique can be used for identification of chromosomal abnormalities and for gene mapping.
Diagnostic Methods
Technology
Use of Giemsa stain to produce a characteristic staining pattern on chromosomes
Diagnostic Methods
Technology
The process of measuring the extent of crossovers between chromosomes as a gauge of the distance between genes.
Diagnostic Methods
Technology
Use of a DNA or RNA probe to detect the presence of complementary sequences in chromosomes, cells, or tissues.
Diagnostic Methods
Technology
The preparation, analysis, and interpretation of a karyotype, the representation of the chromosome set of a cell.
Diagnostic Methods
Technology
Studies of chromosome biology and behavior at the molecular level.
Diagnostic Methods
Technology
A novel karyotyping procedure which is based on the simultaneous hybridization of 24 chromosome-specific painting probes labeled with different fluorochromes or fluorochrome combinations. The measurement of defined emission spectra by means of interferometer-based spectral imaging allows for the definitive discernment of all human chromosomes in different colors. (from Schrock et al., Hum Genet 1997:101:255-62)
Diagnostic Methods
Technology
A molecular cytogenetic method combining chromosomal comparative genomic hybridization technique and microarray to detect chromosomal aberrations and changes in DNA copy numbers in the genome, using oligonucleotides immobilized on a solid support as targets for hybridization.
Diagnostic Methods
Technology
A molecular genetic technique that isolates and sequences chromosomal regions that are rich in open chromatin. First, nuclei are harvested from a cellular sample. Then a hyperactive Tn5 transposase is added to the nuclei where it excises non-nucleosomal DNA strands and ligates co-administered high-throughput sequencing adapters (tagmentation). The tagged DNA fragments are isolated, amplified by PCR and sequenced. The number of reads for specific region of DNA correlate with increased chromatin accessibility and this method can identify regions of transcription factor and nucleosome binding.
Diagnostic Methods
Technology
Comparative genomic hybridization (CGH) is a technique that allows the detection of losses and gains in DNA copy number across the entire genome without prior knowledge of specific chromosomal abnormalities. Comparative genomic hybridization utilizes the hybridization of differentially labeled tumor and reference DNA to generate a map of DNA copy number changes in tumor genomes. Comparative genomic hybridization is an ideal tool for analyzing chromosomal imbalances in archived tumor material and for examining possible correlations between these findings and tumor phenotypes. (from Ried et al. J Mol Med 1997 75:801-14)
Diagnostic Methods
Technology
Techniques for analysis of chromosomal and subchromosomal properties and structures, such as those to diagnose, classify, screen for, or manage genetic diseases and abnormalities.
Diagnostic Methods