Human Genome — page 3 of 5

456 terms

Human Genome terms

  1. Hematopoietic stem cell An unspecialized precursor cell that will develop into a mature blood cell. See also cell
  2. Hemizygous The condition in which genes are present only once in the genotype and not in pairs.
  3. hemophilia Group of hereditary disorders in which affected individuals fail to make enough of certain proteins needed to form blood clots.
  4. Hereditary cancer Cancer that occurs due to the inheritance of an altered gene within a family. See also: sporadic cancer
  5. Heterozygosity The presence of different alleles at one or more loci on homologous chromosomes.
  6. Heterozygote An individual with non-identical alleles for a particular gene or genes. The condition is termed "heterozygous". Opposite: homozygote.
  7. heterozygous (adj.) See: heterozygote.
  8. High-throughput sequencing A fast method of determining the order of bases in DNA. See also: sequencing
  9. Highly conserved sequence A DNA sequence that is very similar in several different kinds of organisms. Scientists regard these cross species similarities as evidence that a…
  10. Hirschsprung's disease A congenital disorder in which part of the colon lacks nerve cells and therefore is unable to relax.
  11. holoprosencephaly A birth defect where the forebrain does not separate properly into two halves during early fetal life.
  12. Homeobox A highly conserved 180 bp DNA sequence that controls body part-, organ- or tissue-specific gene expression, most particularly involved in segmentation in…
  13. Homolog In diploid organisms, one member of a pair of matching chromosomes.
  14. Homologous chromosome Chromosome containing the same linear gene sequences as another, each derived from one parent.
  15. Homologous recombination The exchange of DNA fragments between two DNA molecules or chromatids of paired chromosomes (during crossing over) at the site of identical nucleotide…
  16. Homology 1. The degree of identity between individuals, or characters. 2. The degree of identity of sequence (nucleotide or amino acid) between a number of DNA or…
  17. Homozygote An organism whose genotype is characterized by two identical alleles of a gene. See Allele, Genotype.
  18. homozygous (adj.) See: homozygote.
  19. Human artificial chromosome (HAC) A vector used to transfer or express large fragments of human DNA. HACs behave and are constructed like human chromosomes. See also chromosome, vector
  20. Human gene therapy See: gene therapy
  21. Human Genome Initiative Collective name for several projects begun in 1986 by DOE to create an ordered set of DNA segments from known chromosomal locations, develop new…
  22. Human Genome Project An international research project to map each human gene and to completely sequence human DNA. See also gene, mapping
  23. Human Genome Project (HGP) Formerly titled Human Genome Initiative. See also: Human Genome Initiative
  24. human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) AIDS was first reported in 1981 in the United States and has since become a major epidemic, killing nearly 12 million people and infecting more than 30…
  25. Huntington's disease A degenerative brain disorder that usually appears in mid-life. Its symptoms, which include involuntary movement of the face and limbs, mood swings, and…
  26. Hybrid A class that is a mixture or combination of 2 or more classes. For example, a Druid can be viewed as a Warrior/Rogue/Priest hybrid.
  27. Hybridization The hydrogen bonding of complementary DNA and/or RNA sequences to form a duplex molecule. (See Northern hybridization, Southern hybridization.)
  28. Identical twin See: monozygotic twin.
  29. immunotherapy (IH-myoo-noh-THAYR-uh-pee) Treatment to boost or restore the ability of the immune system to fight cancer, infections, and other diseases.
  30. Imprinting A phenomenon in which the disease phenotype depends on which parent passed on the disease gene.
  31. in situ hybridization The visualization of in vivo location of macromolecules (particularly polynucleotides and polypeptides) by the histological staining of tissue sections or…
  32. In vitro (in VEE-troh) In the laboratory (outside the body). The opposite of in vivo (in the body).
  33. In vivo In the body. The opposite of in vitro (outside the body or in the laboratory).
  34. Independent assortment The random distribution during meiosis of alleles (at different genes) to the gametes that is the case when the genes in question are located on different…
  35. Informatics See: bioinformatics
  36. Informed consent A process in which a person is given important facts about a medical procedure or treatment, a clinical trial, or genetic testing before deciding whether…
  37. Inherit In genetics, to receive genetic material from parents through biological processes.
  38. inherited (in-HAYR-it-ed) Transmitted through genes that have been passed from parents to their offspring (children).
  39. Insertion A type of chromosomal abnormality in which a DNA sequence is inserted into a gene, disrupting the normal structure and function of that gene.
  40. Insertional mutation See: insertion
  41. intellectual property rights (Abbreviation: IPR). The legal framework, which includes patenting and plant variety protection, by which inventors control the commercial application of…
  42. interference a proceeding, conducted before the Board of Patent Appeals and Interferences (Board), to determine priority of invention between a pending application and…
  43. Interphase The stage in the cell cycle when the cell is not dividing and during part of which DNA replication occurs; it follows telophase of one mitotic division…
  44. Intron A noncoding DNA sequence within a gene that is initially transcribed into messenger RNA but is later snipped out.
  45. Isoenzyme See: isozyme.
  46. Junk DNA See: repetitive DNA.
  47. Karyotype All of the chromosomes in a cell or an individual organism, visible through a microsope during cell division.
  48. Kilobase (kb) Unit of length for DNA fragments equal to 1000 nucleotides.
  49. knockout A mutant individual, in which a single functional gene has been replaced by a non-functional form of the gene.
  50. leukemia (loo-KEE-mee-uh) Cancer that starts in blood-forming tissue such as the bone marrow and causes large numbers of blood cells to be produced and enter the…
  51. library A collection of cells, usually bacteria or yeast, that have been transformed with recombinant vectors carrying DNA inserts from a single species.
  52. linkage The frequency of coinheritance of a pair of genes and/or genetic markers, which provides a measure of their physical proximity to one another on a…
  53. Linkage disequilibrium See: gametic phase disequilibrium.
  54. Linkage map See Genetic linkage map.
  55. Localize Determination of the original position (locus) of a gene or other marker on a chromosome.
  56. locus (LOH-kuss) Specific place where something is located or occurs. It may refer to a specific place on the body (such as an acupuncture point) or the place…
  57. Locus (pl. loci) The position on a chromosome of a gene or other chromosome marker; also, the DNA at that position.
  58. LOD score The logarithm of the odds of linkage between two loci. Used to measure the statistical support for linkage.
  59. Long-Range Restriction Mapping Restriction enzymes are proteins that cut DNA at precise locations. Restriction maps depict the chromosomal positions of restriction-enzyme cutting sites.
  60. Lymphocyte (LIM-foh-site) A type of white blood cell. Lymphocytes have a number of roles in the immune system, including the production of antibodies and other…
  61. Macrorestriction map Map depicting the order of and distance between sites at which restriction enzymes cleave chromosomes.
  62. malformation A structural defect inherited in an organ or part of an organ that results from abnormal fetal development. See also syndrome
  63. mapping Determining the physical location of a gene or genetic marker on a chromosome. (See Continuous map, Genetic map, Physical map.)
  64. Mapping population The group of related organisms used in constructing a genetic map.
  65. marker A diagnostic indication that disease may develop.
  66. Mass spectrometry this technique can be used to both measure and analyze molecules under study. It involves introducing enough energy into a target molecule to cause its…
  67. Megabase (Mb) Unit of length for DNA fragments equal to 1 million nucleotides and roughly equal to 1 cM. See also: centimorgan
  68. Meiosis A special form of cell division in which each daughter cell receives half the amount of DNA as the parent cell.
  69. melanoma (MEH-luh-NOH-muh) A form of cancer that begins in melanocytes (cells that make the pigment melanin).
  70. Mendel, Johann (Gregor) Austrian biologist, born in 1822 and died in 1884, who laid the foundations for the science of genetics.
  71. Mendelian inheritance Manner in which genes and traits are passed from parents to children. Examples of Mendelian inheritance include autosomal dominant, autosomal recessive…
  72. Messenger RNA (mRNA) The class of RNA molecules that copies the genetic information from DNA, in the nucleus, and carries it to ribosomes, in the cytoplasm, where it is…
  73. Metaphase Stage of mitosis or meiosis (following prophase and preceding anaphase ) during which the chromosome s, or at least the kinetochores, lie in the central…
  74. Microarray Sets of miniaturized chemical reaction areas that may also be used to test DNA fragments, antibodies, or proteins.
  75. microarray technology A new way of studying how large numbers of genes interact with each other and how a cell's regulatory networks control vast batteries of genes…
  76. Microbial genetics The study of genes and gene function in bacteria, archaea, and other microorganisms.
  77. Microinjection A means to introduce a solution of DNA, protein, or other soluble material into a cell using a fine microcapillary pipet.
  78. Micronuclei Chromosome fragments that are not incorporated into the nucleus at cell division.
  79. microsatellite A short sequence of DNA, usually 1 to 4 basepairs (a unit of DNA), that is repeated together in a row along the DNA molecule.
  80. Mitochondrial DNA (Abbreviation: mtDNA). A circular DNA found in mitochondria. In mammals, mtDNA makes up less than 1% of the total DNA, but in plants the amount is…
  81. Mitosis (my-TOH-sis) The process by which a single parent cell divides to make two new daughter cells.
  82. Model organisms A laboratory animal or other organism useful for research.
  83. Modeling The use of statistical analysis, computer analysis, or model organisms to predict outcomes of research.
  84. Molecular biology The study of the biochemical and mo- lecular interactions within living cells.
  85. Molecular farming The development of transgenic animals to produce human proteins for medical use.
  86. Molecular genetics The study of the flow and regulation of genetic information between DNA, RNA, and protein molecules.
  87. Molecular medicine (muh-LEH-kyoo-ler MEH-dih-sin) A branch of medicine that develops ways to diagnose and treat disease by understanding the way genes, proteins, and other…
  88. Monogenic disorder A disorder caused by mutation of a single gene. See also: mutation, polygenic disorder
  89. Monogenic inheritance See: monogenic disorder
  90. Monosomy Possessing only one copy of a particular chromosome instead of the normal two copies. See also cell, chromosome, trisomy
  91. Morbid map A diagram showing the chromosomal location of genes associated with disease.
  92. mouse model The use of special strains of mice to study a human disease or condition, and how to prevent and treat it.
  93. Multifactorial or multigenic disorder See: polygenic disorder
  94. multiple endocrine neoplasia, type 1 (MEN1) A rare inherited disorder that affects the endocrine glands, which release hormones into the bloodstream.
  95. Multiplexing A laboratory approach that performs multiple sets of reactions in parallel (simultaneously); greatly increasing speed and throughput.
  96. Murine Organism in the genus Mus. A rat or mouse.
  97. Mutagen (MYOO-tuh-jen) Anything that causes a mutation (a change in the DNA of a cell).
  98. Mutagenicity The capacity of a chemical or physical agent to cause permanent genetic alterations. See also: somatic cell genetic mutation
  99. Mutation (myoo-TAY-shun) Any change in the DNA of a cell. Mutations may be caused by mistakes during cell division, or they may be caused by exposure to…
  100. neurofibromatosis An inherited progressive disorder in which tumors form on peripheral nerves. The tumors can be severely disfiguring and can also result in loss of hearing…

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