Conformation-sensitive gel electrophoresis

CSGE. A type of mutation testing in which a segment of DNA is screened for mismatched pairing between normal and mutated base pairs. Also called CSGE.

CSGE

Conformation-sensitive gel electrophoresis. A type of mutation testing in which a segment of DNA is screened for mismatched pairing between normal and mutated base pairs. Also called conformation-sensitive gel electrophoresis.

DNA

Deoxyribonucleic acid. The molecular basis of heredity; encodes the genetic information responsible for the development and function of an organism and allows for transmission of that genetic information from one generation to the next. The DNA molecule is structured as a double-stranded helix held together by weak hydrogen bonds between purine-pyrimidine nucleotide base pairs: adenine (A) paired with thymine (T), and guanine (G) paired with cytosine (C). Also called deoxyribonucleic acid. (NCI Thesaurus)

FISH

Fluorescence in situ hybridization. A technique used to identify the presence of specific chromosomes or chromosomal regions through hybridization (attachment) of fluorescently-labeled DNA probes to denatured chromosomal DNA. Examination through a microscope under fluorescent lighting detects the presence of the colored hybridized signal (and hence presence of the chromosome material) or absence of the hybridized signal (and hence absence of the chromosome material). Also called fluorescence in situ hybridization. (NCI Thesaurus)

Fluorescence in situ hybridization

FISH. A technique used to identify the presence of specific chromosomes or chromosomal regions through hybridization (attachment) of fluorescently-labeled DNA probes to denatured chromosomal DNA. Examination through a microscope under fluorescent lighting detects the presence of the colored hybridized signal (and hence presence of the chromosome material) or absence of the hybridized signal (and hence absence of the chromosome material). Also called FISH. (NCI Thesaurus)

HA

A method of detecting sequence differences between normal DNA and the DNA to be tested. It is commonly used as a screening method to detect potential mutations in a gene. Also called heteroduplex analysis.

Heteroduplex analysis

A method of detecting sequence differences between normal DNA and the DNA to be tested. It is commonly used as a screening method to detect potential mutations in a gene. Also called HA.

LD

Where alleles (DNA markers) occur together more often than can be accounted for by chance because of their physical proximity on a chromosome. Also called linkage disequilibrium. (NCI Thesaurus)

Linkage disequilibrium

Where alleles (DNA markers) occur together more often than can be accounted for by chance because of their physical proximity on a chromosome. Also called LD. (NCI Thesaurus)

LOH

Loss of heterozygosity. If there is one normal and one abnormal allele at a particular locus, as might be seen in an inherited autosomal dominant cancer susceptibility disorder, loss of the normal allele produces a locus with no normal function. When the loss of heterozygosity involves the normal allele, it creates a cell that is more likely to show malignant growth if the altered gene is a tumor suppressor gene. Also called loss of heterozygosity. (NCI Thesaurus)

Nonsense mutation

A mutation that alters the genetic code in a way that causes the premature termination of a protein. The altered protein may be partially or completely inactivated, resulting in a change or loss of protein function. (NCI Thesaurus)

Tagging SNP

A single nucleotide polymorphism, or SNP (pronounced “snip”), that is used to “tag” a particular haplotype in a region of the genome. As a subset of all of the SNPs in the genome, tagging SNPs can be extremely useful for testing the association of a marker locus with a qualitative or quantitative trait locus in that it may not be necessary to genotype all of the SNPs. Also called tagSNP.

TagSNP

A single nucleotide polymorphism, or SNP (pronounced “snip”), that is used to “tag” a particular haplotype in a region of the genome. As a subset of all of the SNPs in the genome, tagSNPs can be extremely useful for testing the association of a marker locus with a qualitative or quantitative trait locus in that it may not be necessary to genotype all of the SNPs. Also called tagging SNP.

Adenosine triphosphate

A substance present in all living cells that provides energy for many metabolic processes and is involved in making RNA. Adenosine triphosphate made in the laboratory is being studied in patients with advanced solid tumors to see if it can decrease weight loss and improve muscle strength. Also called ATP.

Allele

One of two or more DNA sequences occurring at a particular gene locus. Typically one allele (“normal” DNA sequence) is common, and other alleles (mutations) are rare. (NCI Thesaurus)