Human Genome

Human Genome terms

1. Acquired genetic mutation See: somatic cell genetic mutation
2. Additive genetic effects When the combined effects of alleles at different loci are equal to the sum of their individual effects. See also: anticipation, complex trait
3. adenine (Abbreviation: A). One the base s found in DNA and RNA. See: adenosine.
4. Adenine (A) A nitrogenous base, one member of the base pair AT (adenine-thymine). See also: base pair, nucleotide
5. adenosine deaminase deficiency (ADA) A severe immunodeficiency disease that results from a lack of the enzyme adenosine deaminase.
6. adenovirus (A-den-oh-VY-rus) A group of viruses that cause respiratory tract and eye infections.
7. Affected relative pair Individuals related by blood, each of whom is affected with the same trait. Examples are affected sibling, cousin, and avuncular pairs.
8. Aggregation technique A technique used in model organism studies in which embryos at the 8-cell stage of development are pushed together to yield a single embryo (used as an…
9. Alagille syndrome A rare inherited liver disorder seen in infants and young children. The disease is characterized by a buildup of bile in the liver due to a deficiency or…
10. allele A variant form of a gene. In a diploid cell there are two alleles of every gene (one inherited from each parent, although they could be identical).
11. Allogeneic (A-loh-jeh-NAY-ik) Taken from different individuals of the same species. Also called allogenic.
12. Alternative splicing Different ways of combining a gene's exons to make variants of the complete protein
13. Amino acid (uh-MEE-noh A-sid) One of several molecules that join together to form proteins. There are 20 common amino acids found in proteins.
14. amino acids A group of 20 different kinds of small molecules that link together in long chains to form proteins.
15. Amplification 1. Creation of many copies of a segment of DNA by the polymerase chain reaction. 2. Treatment (e.g.
16. animal model An animal with a disease either the same as or like a disease in humans. Animal models are used to study the development and progression of diseases and…
17. annotation Adding pertinent information such as gene coded for, amino acid sequence, or other commentary to the database entry of raw sequence of DNA bases.
18. Antibody (AN-tee-BAH-dee) A type of protein made by plasma cells (a type of white blood cell) in response to an antigen (foreign substance).
19. Anticipation A situation that exists when claimed invention is not novel in view of the prior art.
20. Antisense The non-coding strand in double-stranded DNA. The antisense strand serves as the template for mRNA synthesis. See also cell
21. apoptosis (A-pop-TOH-sis) A type of cell death in which a series of molecular steps in a cell leads to its death.
22. Arrayed library Individual primary recombinant clones (hosted in phage, cosmid, YAC, or other vector) that are placed in two-dimensional arrays in microtiter dishes.
23. Assembly Putting sequenced fragments of DNA into their correct chromosomal positions.
24. ataxia-telangiectasia A rare, inherited, progressive, degenerative disease of childhood that causes loss of muscle control, a weakened immune system, and an increased risk of…
25. Autoimmune Lymphoproliferative syndrome (ALPS) A human disease caused by failure of lymphocytes to die once they have finished doing their job.
26. Autoradiography A technique that uses X-ray film to visualize radioactively labeled molecules or fragments of molecules; used in analyzing length and number of DNA…
27. Autosomal dominant A pattern of Mendelian inheritance whereby an affected individual possesses one copy of a mutant allele and one normal allele.
28. Autosome A chromosome that is not involved in sex determination.
29. Avuncular relationship The genetic relationship between nieces and nephews and their aunts and uncles.
30. Backcross Crossing an organism with one of its parent organisms.
31. Bacteria (bak-TEER-ee-uh) A large group of single-cell microorganisms. Some cause infections and disease in animals and humans.
32. Bacterial artificial chromosome (BAC) Large segments of DNA, 100,000 to 200,000 bases, from another species cloned into bacteria.
33. Bacteriophage (Abbreviation: phage). A virus that infects bacteria. Altered forms are used as cloning vectors. See: lambda phage, M13.
34. base One of the components of nucleosides, nucleotides and nucleic acids . Four different bases are found in naturally occurring DNA - the purines A (adenine )…
35. base pair combination of 2 nucleotides (A and T or G and C) held together by weak hydrogen bonds; the DNA double helix is formed when a base pair of nucleotides in…
36. Base pair (bp) A pair of complementary nitrogenous bases in a DNA molecule--adenine-thymine and guanine-cytosine. Also, the unit of measurement for DNA sequences.
37. Base sequence The order of nucleotide bases in a DNA molecule; determines structure of proteins encoded by that DNA.
38. Base sequence analysis A method, sometimes automated, for determining the base sequence.
39. Behavioral genetics The study of genes that may influence behavior.
40. Bioinformatics (BY-oh-in-for-MA-tix) The science of using computers, databases, and math to organize and analyze large amounts of biological, medical, and health…
41. Bioremediation The use of microorganisms to remedy environmental problems. See Bioaugmentation, Bioenrichment.
42. Biotechnology The scientific manipulation of living organ- isms, especially at the molecular genetic level, to produce useful products.
43. Birth defect A structural, functional, or metabolic abnormality present at birth that results in physical or mental disability or is fatal.
44. BLAST An immature blood cell.
45. bone marrow transplantation (bone MAYR-oh tranz-plan-TAY-shun) A procedure to replace bone marrow that has been destroyed by treatment with high doses of anticancer drugs or…
46. BRCA1/BRCA2 The first breast cancer genes to be identified. Mutated forms of these genes are believed to be responsible for about half the cases of inherited breast…
47. Cancer (KAN-ser) A term for diseases in which abnormal cells divide without control. Cancer cells can invade nearby tissues and can spread to other parts of the…
48. candidate gene A gene whose deduced function (on the basis of DNA sequence) suggests that it may be involved in the genetic control of an aspect of phenotype.
49. Capillary array Gel-filled silica capillaries used to separate fragments for DNA sequencing. The small diameter of the capillaries permit the application of higher…
50. carcinogen (kar-SIN-o-jin) Any substance that causes cancer.
51. carcinoma (KAR-sih-NOH-muh) Cancer that begins in the skin or in tissues that line or cover internal organs.
52. carrier A heterozygous individual bearing a recessive mutant allele for a defective condition that is "masked" by the presence of the dominant normal allele; the…
53. cDNA library A library composed of complementary copies of cellular mRNAs. (See Library.)
54. Cell The fundamental level of structural organization in complex organisms. Eukaryotic cells contain a nucleus (with chromosome s) and cytoplasm with the…
55. centiMorgan (Abbreviation: cM). Unit of map distance. For small recombination fractions, cM and % recombination frequency are equivalent.
56. Centimorgan (cM) A unit of measure of recombination frequency. One centimorgan is equal to a 1% chance that a marker at one genetic locus will be separated from a marker…
57. Centromere The central portion of the chromosome to which the spindle fibers attach during mitotic and meiotic division.
58. Chimera (pl. chimaera) An organism that contains cells or tissues with a different genotype. These can be mutated cells of the host organism or cells from a different organism…
59. Chimeraplasty A method designed to create defined alterations in DNA sequence at a target locus, with potential both for gene therapy and for investigating gene…
60. Chloroplast chromosome Circular DNA found in the photosynthesizing organelle (chloroplast) of plants instead of the cell nucleus where most genetic material is located.
61. Chromomere One of the serially aligned beads or granules of a eukaryotic chromosome, resulting from local coiling of a continuous DNA thread.
62. Chromosomal deletion The loss of part of a chromosome's DNA.
63. Chromosomal inversion Chromosome segments that have been turned 180 degrees. The gene sequence for the segment is reversed with respect to the rest of the chromosome.
64. Chromosome (KROH-muh-some) Part of a cell that contains genetic information. Except for sperm and eggs, all human cells contain 46 chromosomes.
65. Chromosome painting Attachment of certain fluorescent dyes to targeted parts of the chromosome. Used as a diagnositic for particular diseases, e.g. types of leukemia.
66. Chromosome region p A designation for the short arm of a chromosome.
67. Chromosome region q A designation for the long arm of a chromosome.
68. Clone An exact genetic replica of a specific gene or an entire organism. See Cloning.
69. Clone bank See: gene bank.
70. Cloning The mitotic division of a progenitor cell to give rise to a population of identical daughter cells or clones.
71. Cloning vector A small, self-replicating DNA molecule - usually a plasmid or viral DNA chromosome - into which foreign DNA is inserted in the process of cloning genes or…
72. CODE See: genetic code
73. Codominance Situation in which two different alleles for a genetic trait are both expressed. See also: autosomal dominant, recessive gene
74. Codon A group of three nucleotides that specifies addition of one of the 20 amino acids during translation of an mRNA into a polypeptide.
75. Coisogenic or congenic Nearly identical strains of an organism; they vary at only a single locus.
76. Comparative genomics The study of human genetics by comparisons with model organisms such as mice, the fruit fly, and the bacterium E. coli.
77. Complementary DNA (cDNA) DNA that is synthesized in the laboratory from a messenger RNA template.
78. Complementary sequence Nucleic acid base sequence that can form a double-stranded structure with another DNA fragment by following base-pairing rules (A pairs with T and C with…
79. Complex trait Trait that has a genetic component that does not follow strict Mendelian inheritance.
80. Computational biology See: bioinformatics
81. Confidentiality In genetics, the expectation that genetic material and the information gained from testing that material will not be available without the donor's consent.
82. Congenital Any trait or condition that exists from birth. See also
83. Conserved sequence An identical or highly similar sequence of nucleotides or amino acids which occurs as part, or all of a number of different genes or protein s, in either…
84. Constitutive ablation Gene expression that results in cell death.
85. contig A set of overlapping cloned DNA fragments that can be assembled to represent a defined region of the chromosome or genome from which they were obtained.
86. Contig map A map depicting the relative order of a linked library of overlapping clones representing a complete chromosomal segment.
87. Cosmid A synthetic plasmid which incorporates the cos ends, and one or more selectable markers such as an antibiotic resistance gene.
88. craniosynostosis A birth defect whereby an infant's skull bones are already fused at birth. Because this defect may interfere with the ability of the brain to grow…
89. Crossing over The exchange of DNA sequences between chromatids of homologous chromosomes during meiosis.
90. cystic fibrosis A common hereditary disease in which exocrine (secretory) glands produce abnormally thick mucus.
91. cytogenetic map The visual appearance of a chromosome when stained and examined under a microscope.
92. Cytogenetics (SY-toh-jeh-NEH-tix) The study of chromosomes and chromosomal abnormalities.
93. Cytological band An area of the chromosome that stains differently from areas around it. See also: cytological map
94. Cytological map A type of chromosome map whereby genes are located on the basis of cytological findings obtained with the aid of chromosome mutations.
95. Cytoplasmic (uniparental) inheritance See: cytoplasmic trait
96. Cytoplasmic trait A genetic characteristic in which the genes are found outside the nucleus, in chloroplasts or mitochondria.
97. cytosine (Abbreviation: C). One the bases found in DNA and RNA. See: cytidine.
98. Cytosine (C) A nitrogenous base, one member of the base pair GC (guanine and cytosine) in DNA. See also: base pair, nucleotide
99. Data warehouse A collection of databases, data tables, and mechanisms to access the data on a single subject.
100. Deletion Deletion is the process whereby data is removed from active files and other data storage structures on computers and rendered inaccessible except using…