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Suggested Citation:"APPENDIX A: Glossary." National Research Council. 1988. Report of the Committee on Mapping and Sequencing the Human Genome. Washington, DC: The National Academies Press. doi: 10.17226/18430.
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Page 96
Suggested Citation:"APPENDIX A: Glossary." National Research Council. 1988. Report of the Committee on Mapping and Sequencing the Human Genome. Washington, DC: The National Academies Press. doi: 10.17226/18430.
×
Page 97

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APPENDIX A GLOSSARY The following have been taken directly or modified from definitions in A Dictionary of Genetics, 3rd edition, by Robert C. King and William D. Stansfield, Oxford University Press, Nev York, 1985, with permission from the publisher. Allele--0ne of a series of possible alternative forms of a given gene, differing in DNA sequence and affecting the functioning of a single product (RNA and/or protein). cDNA--Complementary DNA produced from a RNA template by the action of RNA-dependent DNA polymerase (reverse transcriptase). Chromos ome--(1) In prokaryotes, the circular DNA molecule containing the entire set of genetic instructions essential for life of the cell. (2) In the eukaryotic nucleus, one of the threadlike structures consisting of chromatin and carrying genetic information arranged in linear sequence. Clone.--(1) A group of genetically identical cells or organisms all descended from a single common ancestral cell or organism by mitosis in eukaryotes or by binary fission in prokaryotes. (2) Genetically engineered replicas of DNA sequences. Codon--The nucleotide triplet in messenger RNA that specifies the amino acid to be inserted in a specific position in the forming polypeptide during translation. Cosmid--Plasmid vectors designed for cloning large fragments of eukaryotic DNA. Crossing over--The exchange of genetic material between homologous chromosomes. Cytoeenetics--The science that combines the methods and findings of cytology and genetics. Electrophoresis--The movement of the charged molecules in solution in an electrical field. The solution is generally held in a porous support medium, such as filter paper, cellulose acetate (rayon), or a gel made of starch, agar, or polyacrylamide. Electrophoresis is generally used to separate molecules from a mixture on the basis of differences in net electrical charge and also by size or geometry of the molecules, in a manner that depends on the characteristics of the gel matrix. The "SDS-PAGE" technique is a method of separating proteins by exposing them to the anionic detergent sodium dodecyl sulfate (SDS) and polyacrylamide gel electrophoresis (PAGE). When SDS binds to proteins, it breaks all noncovalent interactions so that the molecules assume a random coil configuration, provided no disulfide bonds exist (the latter can be broken by treatment with mercaptoethanol). The distance moved per unit of time by a random coil follows a mathematical formula that takes into account the molecular weight of the molecule, from which the molecular weight can be calculated. 96

Exon--A portion of split gene that is included in the transcript of a gene and that survives processing of the RNA in the cell nucleus to become part of a spliced messenger of a structural RNA in the cell cytoplasm. Fingerprint technique--A method of combining electrophoresis and chromatography to separate the components of a protein hydrolysate. Gene--A hereditary unit that, in the classical sense, occupies a specific position (locus) within the genome or chromosome; a unit that has one or more specific effects upon the phenotype of the organism; a unit that can mutate to various allelic forms; a unit that recombines with other such units. Genome--A term used to refer to all of the genes carried by a single gamete (i.e., by a single representative of each of all chromosome pairs.) Intron--In split genes a segment that is transcribed into nuclear RNA, but is subsequently removed from within the transcript and rapidly degraded. Most genes in the nuclei of eukaryotes contain introns, and so do mitochondrial and some chloroplast genes. Linkage map--A chromosome map showing the relative positions of the known genes on the chromosomes of a given species. 01igonucleotide--A polymer made up of a few (between 2 and 10) nucleotides. Open reading frame--Regions in a DNA molecule where successive nucleotide triplets can potentially be read as codons specifying amino acids and where the sequence of these triplets is not interrupted by stop codons. Polymorphism--The existence of two or more genetically different classes in the same interbreeding population (Rh-positive and Rh-negative humans, for example). Recombination--The occurrence of progeny with combinations of genes other than those that occurred in the parents as a result of independent assortment or crossing over. Restriction fragment length polymorphisms--Variations occurring within a species in the length of DNA fragments generated by a specific endonuclease. Such variations are generated by mutations that create or abolish recognition sites for these enzymes. For example, restriction endonuclease mapping of human structural genes for beta hemoglobin chains has shown that parents with the sickle cell mutation produce abnormal restriction fragments. Reverse transcription--DNA synthesis from an RNA template, mediated by reverse transcriptase. Somatic cell--Any cell of the eukaryotic body other than those destined to become sex cells. In diploid organisms, most somatic cells contain the 2N number of chromosomes. Stop codon--A ribonucleotide triplet signaling the termination of the translation of a protein chain. 97

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