Human Genome — page 5 of 5

456 terms

Human Genome terms

  1. Shotgun method Sequencing method that involves randomly sequenced cloned pieces of the genome, with no foreknowledge of where the piece originally came from.
  2. shotgun sequencing An approach used to decode an organism's genome by shredding it into smaller fragments of DNA which can be sequenced individually.
  3. sickle cell disease (SIH-kul sel dih-ZEEZ) An inherited disease in which the red blood cells have an abnormal crescent shape, block small blood vessels, and do not last as…
  4. Single nucleotide polymorphism (SNP) DNA sequence variations that occur when a single nucleotide (A, T, C, or G) in the genome sequence is altered.
  5. single nucleotide polymorphisms (SNPs) Common, but minute, variations that occur in human DNA at a frequency of one every 1,000 bases.
  6. Single-gene disorder Hereditary disorder caused by a mutant allele of a single gene (e.g., Duchenne muscular dystrophy, retinoblastoma, sickle cell disease).
  7. Somatic cell (soh-MA-tik ...) Any of the body cells except the reproductive (germ) cells.
  8. Somatic cell gene therapy The repair or replacement of a defective gene within somatic tissue. (See Somatic cell.)
  9. Somatic cell genetic mutation A change in the genetic structure that is neither inherited nor passed to offspring. Also called acquired mutations. See also: germ line genetic mutation
  10. Somatic cells Cells of body tissues other than the germline.
  11. Southern blot A nitrocellulose or nylon membrane to which DNA fragments previously separated by gel electrophoresis, have been transferred by capillary action.
  12. Southern blotting See Southern hybridization.
  13. Spectral karyotype (SKY) A visualization of all of an organism's chromosomes together, each labeled with a different color.
  14. Splice site Location in the DNA sequence where RNA removes the noncoding areas to form a continuous gene transcript for translation into a protein.
  15. Sporadic cancer Cancer that occurs randomly and is not inherited from parents. Caused by DNA changes in one cell that grows and divides, spreading throughout the body.
  16. Stem cell A cell from which other types of cells develop. For example, blood cells develop from blood-forming stem cells.
  17. Structural genomics The effort to determine the 3D structures of large numbers of proteins using both experimental techniques and computer simulation
  18. substitution Replacement of one nucleotide in a DNA sequence by another nucleotide or replacement of one amino acid in a protein by another amino acid.
  19. suicide gene A strategy for making cancer cells more vulnerable to chemotherapy. One approach has been to link parts of genes expressed in cancer cells to other genes…
  20. Suppressor gene A gene that can suppress the action of another gene.
  21. syndrome (SIN-drome) A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the…
  22. Syngeneic (SIN-juh-NAY-ik) Having to do with individuals or tissues that have identical genes.
  23. Synteny The occurrence of two or more loci on the same chromosome, without regard to their genetic linkage.
  24. Tandem repeat sequences Multiple copies of the same base sequence on a chromosome; used as markers in physical mapping. See also: physical map
  25. Targeted mutagenesis Deliberate change in the genetic structure directed at a specific site on the chromosome. Used in research to determine the targeted region's function.
  26. Technology transfer The process of providing the private sector access to technological advances developed by scientists in the Federal government. See also
  27. Telomerase An enzyme that maintains the structure of the telomere by adding the required repetitive sequences to the ends of eukaryotic chromosomes.
  28. Telomere The end of a chromosome.
  29. Teratogenic Substances such as chemicals or radiation that cause abnormal development of a embryo. See also: mutagen
  30. thymine (Abbreviation: T). One the bases found in DNA. See: thymidine.
  31. Thymine (T) A nitrogenous base, one member of the base pair AT (adenine-thymine). See also: base pair, nucleotide
  32. Toxicogenomics The study of how genomes respond to environmental stressors or toxicants. Combines genome-wide mRNA expression profiling with protein expression patterns…
  33. Transcription In biology, the process by which a cell makes an RNA copy of a sequence of DNA that is a gene.
  34. Transcription factor A protein that regulates the transcription of genes.
  35. Transcriptome The full complement of activated genes, mRNAs, or transcripts in a particular tissue at a particular time
  36. Transfection The uptake and expression of a foreign DNA sequence by cultured eukaryotic cells.
  37. Transfer RNA (tRNA) See tRNA.
  38. transformation (TRANZ-for-MAY-shun) In medicine, the change that a normal cell undergoes as it becomes malignant.
  39. Transgenic An organism in which a foreign DNA gene (a transgene) is incorporated into its genome early in de- velopment.
  40. Translation The process of converting the genetic infor- mation of an mRNA on ribosomes into a polypeptide.
  41. Translocation (TRANZ-loh-KAY-shun) A genetic change in which a piece of one chromosome breaks off and attaches to another chromosome.
  42. Transposable element A class of DNA sequences that can move from one chromosomal site to another.
  43. trisomy The presence in a diploid cell or organism of an extra chromosome of one homologue (chromosome formula: 2n + 1). See: disomy; monosomic.
  44. tumor suppressor gene (TOO-mer suh-PREH-ser jeen) A type of gene that makes a protein called a tumor suppressor protein that helps control cell growth.
  45. uracil (YOOR-uh-sil) One of four building blocks of ribonucleic acid (RNA), a type of nucleic acid found in all cells.
  46. vector any living creature that transmits an infectious agent to humans.
  47. Virus (VY-rus) In medicine, a very simple microorganism that infects cells and may cause disease.
  48. Western blot A test for detecting the specific antibodies to HIV in a person's blood. It is commonly used to verify positive EIA tests.
  49. Wild type An organism as found in nature; the organism before it is genetically engineered.
  50. Wolfram syndrome A rare autosomal recessive disorder that leads to many different abnormalities, including diabetes mellitus, deafness, and blindness.
  51. Working Draft DNA Sequence See: Draft DNA Sequence
  52. X chromosome See: sex chromosome.
  53. Xenograft The cells of one species transplanted to another species.
  54. Y chromosome See: sex chromosome.
  55. Yeast artificial chromosome (YAC) Extremely large segments of DNA from another species spliced into DNA of yeast.
  56. Zinc-finger protein A secondary feature of some proteins containing a zinc atom; a DNA-binding protein.

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