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  1. achondroplasia
    an inherited skeletal disorder beginning before birth
    Well-known dominant alleles occur in the human genes for Huntington disease, a form of dwarfism called achondroplasia, and polydactylism (extra fingers and toes).
  2. adenine
    purine base found in DNA and RNA
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  3. adenosine triphosphate
    a nucleotide derived from adenosine that occurs in muscle tissue; the major source of energy for cellular reactions
    This is because mitochondria are responsible for converting the energy stored in macromolecules into a form usable by the cell, namely, the adenosine triphosphate (ATP) molecule.
  4. allele
    any of the forms of a gene that can occupy the same locus
    Methylation also plays an important role in genomic imprinting, which occurs when both maternal and paternal alleles are present but only one allele is expressed while the other remains inactive.
  5. allelic
    of or relating to alleles
    Determining the allelic condition used to be accomplished solely through the analysis of pedigrees, much the way Mendel carried out his experiments on peas.
  6. amino
    pertaining to or containing any of a group of organic compounds of nitrogen derived from ammonia
    Proteins are long chains containing as many as 20 different kinds of amino acids.
  7. amino acid
    organic compounds containing an amino group and acid group
    Proteins are long chains containing as many as 20 different kinds of amino acids.
  8. Arabidopsis
    a genus of the mustard family having white or yellow or purplish flowers; closely related to genus Arabis
    Gene Switching: Turning Genes On and Off

    The estimated number of genes for humans, less than 30,000, is not so different from the 25,300 known genes of Arabidopsis thaliana, commonly called mustard grass.
  9. Arabidopsis thaliana
    a small invasive self-pollinating weed with small white flowers; much studied by plant geneticists; the first higher plant whose complete genome sequence was described
    Gene Switching: Turning Genes On and Off

    The estimated number of genes for humans, less than 30,000, is not so different from the 25,300 known genes of Arabidopsis thaliana, commonly called mustard grass.
  10. base pair
    one of the pairs of chemical bases joined by hydrogen bonds that connect the complementary strands of a DNA molecule or of an RNA molecule that has two strands; the base pairs are adenine with thymine and guanine with cytosine in DNA and adenine with uracil and guanine with cytosine in RNA
    Thus, A-T and G-C base pairs are said to be complementary.
  11. blood type
    human blood cells that have the same antigens
    Then there are the not so obvious genetic variations, such as blood type.
  12. centromere
    a specialized condensed region of each chromosome that appears during mitosis where the chromatids are held together to form an X shape
    The centromere, shown at the center of this chromosome, is a specialized structure that appears during cell division and ensures the correct distribution of duplicated chromosomes to daughter cells.
  13. chemical property
    a property used to characterize materials in reactions that change their identity
    As stated previously, the chemical properties of the four DNA bases differ slightly, providing each base with unique opportunities to chemically react with other molecules.
  14. chloroplast
    organelle in which photosynthesis takes place
    Plants also have a second organelle, the chloroplast, which also has its own DNA.
  15. chromosome
    a threadlike strand of DNA that carries genes
    In 1909, Danish botanist Wilhelm Johanssen coined the word gene for the hereditary unit found on a chromosome.
  16. coding DNA
    sequence of a gene's DNA that transcribes into protein structures
    Another class of non-coding DNA is the "pseudogene", so named because it is believed to be a remnant of a real gene that has suffered mutations and is no longer functional.
  17. codon
    a specific sequence of three adjacent nucleotides on a strand of DNA or RNA that specifies the genetic code information for synthesizing a particular amino acid
    Here the mRNA is translated into protein by decoding the mRNA sequence in blocks of three RNA bases, called codons, where each codon specifies a particular amino acid.
  18. cytosine
    a base found in DNA and RNA and derived from pyrimidine
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  19. daughter cell
    a cell formed by the division or budding of another cell
    The centromere, shown at the center of this chromosome, is a specialized structure that appears during cell division and ensures the correct distribution of duplicated chromosomes to daughter cells.
  20. deoxyribose
    a sugar that is a constituent of nucleic acids
    In a DNA chain, every base is attached to a sugar molecule (deoxyribose) and a phosphate molecule, resulting in a nucleic acid or nucleotide.
  21. diploid
    an organism or cell having the normal amount of DNA per cell
    The term diploid describes a state in which a cell has two sets of homologous chromosomes, or two chromosomes that are the same.
  22. DNA
    material that carries genetic information in a cell
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  23. dominant allele
    an allele that produces the same phenotype whether its paired allele is identical or different
    The Nature of Alleles

    A dominant allele is an allele that is almost always expressed, even if only one copy is present.
  24. dominant gene
    gene that produces the same phenotype in the organism whether or not its allele identical
    Just how the dominant allele overshadows the other allele depends on the gene, but in some cases the dominant gene produces a gene product that the other allele does not.
  25. egg cell
    the female reproductive cell; the female gamete
    Upon fertilization, an egg cell begins to multiply to produce a ball of cells that are all the same.
  26. encode
    represent ordinary language in a secret form
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  27. eukaryote
    an organism of one or more cells with membrane-bound nuclei
    The location and base sequence of each promoter site vary for prokaryotes (bacteria) and eukaryotes (higher organisms), but they are both recognized by RNA polymerase, which can then grab hold of the sequence and drive the production of an mRNA.
  28. eukaryotic
    having cells with `good' or membrane-bound nuclei
    This theory is also supported by the existence of a eukaryotic organism, called the amoeba, which lacks mitochondria.
  29. gamete
    a mature sexual reproductive cell
    This is because mitochondria are only found in the female gametes or "eggs" of sexually reproducing animals, not in the male gamete, or sperm.
  30. gene
    part of DNA controlling physical characteristics and growth
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  31. gene expression
    conversion of the information encoded in a gene first into messenger RNA and then to a protein
    Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
  32. genotypic
    of or relating to or constituting a genotype
    These expressed, or phenotypic, traits are attributable to genotypic variation in a person's DNA sequence.
  33. globin
    a colorless protein obtained by removing heme from hemoglobin; the oxygen carrying compound in red blood cells
    The Globin Genes: An Example of Transcriptional Regulation

    An example of transcriptional control occurs in the family of genes responsible for the production of globin.
  34. Gregor Mendel
    Augustinian monk and botanist whose experiments in breeding garden peas led to his eventual recognition as founder of the science of genetics (1822-1884)
    Nearly 50 years earlier, Gregor Mendel had characterized hereditary units as factors- observable differences that were passed from parent to offspring.
  35. guanine
    a purine base found in DNA and RNA; pairs with cytosine
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  36. haploid
    (genetics) an organism or cell having only one complete set of chromosomes
    Hence, gametes are said to be haploid-having only a single set of homologous chromosomes.
  37. homozygous
    having identical alleles at corresponding chromosomal loci
    If both alleles are the same, the gene is said to be homozygous.
  38. inactivate
    make inactive
    There are numerous forms of this "repetitive DNA", and a few have known functions, such as stabilizing the chromosome structure or inactivating one of the two X chromosomes in developing females, a process called X-inactivation.
  39. inactivation
    the process of rendering inactive
    There are numerous forms of this "repetitive DNA", and a few have known functions, such as stabilizing the chromosome structure or inactivating one of the two X chromosomes in developing females, a process called X-inactivation.
  40. intron
    sequence of a eukaryotic gene's DNA that is not translated into a protein
    One might then ask what the purpose of an intron is if it is spliced out after it is transcribed?
  41. junk DNA
    stretches of DNA that do not code for genes
    Structural Genes, Junk DNA, and Regulatory Sequences
    Over 98 percent of the genome is of unknown function.
  42. law of independent assortment
    each member of a pair of homologous chromosomes separates independently of the members of other pairs so the results are random
    Law of Independent Assortment: In the gametes, alleles of one gene separate independently of those of another gene, and thus all possible combinations of alleles are equally probable.
  43. law of segregation
    members of a pair of homologous chromosomes separate during the formation of gametes and are distributed to different gametes so that every gamete receives only one member of the pair
    Mendel's Principles of Genetic Inheritance

    Law of Segregation: Each of the two inherited factors (alleles) possessed by the parent will segregate and pass into separate gametes (eggs or sperm) during meiosis, which will each carry only one of the factors.
  44. linked genes
    any pair of genes that tend to be transmitted together
    There are at least a dozen Y-linked genes, in addition to those that code for masculine physical traits.
  45. macromolecule
    any very large complex molecule
    This is because mitochondria are responsible for converting the energy stored in macromolecules into a form usable by the cell, namely, the adenosine triphosphate (ATP) molecule.
  46. Marfan's syndrome
    an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system
    An example is Marfan's syndrome, where there is a defect in the gene coding for a connective tissue protein.
  47. meiosis
    cell division that produces reproductive cells
    Meiosis is the mode of cell replication for the formation of sperm and egg cells in plants, animals, and many other multicellular life forms.
  48. methionine
    a crystalline amino acid containing sulfur
    Translation

    The beginning of translation, the process in which the genetic code carried by mRNA directs the synthesis of proteins from amino acids, differs slightly for prokaryotes and eukaryotes, although both processes always initiate at a codon for methionine.
  49. methyl group
    the univalent radical CH3- derived from methane
    One chemical modification of DNA, called methylation, involves the addition of a methyl group (-CH3).
  50. mitochondrion
    part of a cell involved in energy production
    Both plants and animals have an organelle-a "little organ" within the cell- called the mitochondrion.
  51. mosaicism
    the condition in which an organism has two or more cell populations that differ in genetic makeup
    In this case, somatic mosaicism may be the culprit.
  52. mRNA
    the template for protein synthesis
    Ribonucleic Acids
    In addition to mRNA, DNA codes for other forms of RNA, including ribosomal RNAs (rRNAs), transfer RNAs (tRNAs), and small nuclear RNAs (snRNAs). rRNAs and tRNAs participate in protein assembly whereas snRNAs aid in a process called splicing -the process of editing of mRNA before it can be used as a template for protein synthesis.
  53. mutant gene
    a gene that has changed so that the normal transmission and expression of a trait is affected
    The individual in whom such a nonpenetrant mutant gene exists will be phenotypically normal but still capable of passing the deleterious gene on to offspring, who may exhibit the full-blown disease.
  54. mutation
    a change or alteration in form or qualities
    There are many diseases caused by mutations in mitochondrial DNA (mtDNA).
  55. nucleotide
    a phosphoric ester of a nucleoside
    In a DNA chain, every base is attached to a sugar molecule (deoxyribose) and a phosphate molecule, resulting in a nucleic acid or nucleotide.
  56. organelle
    a specialized part of a cell; analogous to an organ
    Organelle DNA

    Not all genetic information is found in nuclear DNA.
  57. phenotype
    observable characteristics produced by genes and environment
    When two individuals display different phenotypes of the same trait, they are said to have two different alleles for the same gene.
  58. phenotypic
    of or relating to or constituting a phenotype
    These expressed, or phenotypic, traits are attributable to genotypic variation in a person's DNA sequence.
  59. polymerase
    an enzyme that catalyzes the formation of new DNA and RNA from an existing strand of DNA or RNA
    Transcription

    Transcription, the synthesis of an RNA copy from a sequence of DNA, is carried out by an enzyme called RNA polymerase.
  60. recessive
    of or pertaining to a recession
    These factors each exhibit a characteristic dominant, co-dominant, or recessive expression, and those that are dominant will mask the expression of those that are recessive.
  61. recessive allele
    an allele that produces its characteristic phenotype only when its paired allele is identical
    On the other hand, a recessive allele will be expressed only if there are two identical copies of that allele, or for a male, if one copy is present on the X chromosome.
  62. recombination
    the rearrangement of genes (by crossing over) in offspring
    It is still unclear what all the functions of introns are, but scientists believe that some serve as the site for recombination, the process by which progeny derive a combination of genes different from that of either parent, resulting in novel genes with new combinations of exons, the key to evolution.
  63. red blood cell
    a mature blood cell that contains hemoglobin to carry oxygen to the bodily tissues; a biconcave disc that has no nucleus
    Hemoglobin transports oxygen to our tissues via red blood cells.
  64. red-green color blindness
    confusion of red and green
    These include the genes for hemophilia, red-green color blindness, and congenital night blindness.
  65. repressor
    an agent that represses
    Other regulatory sequences include activators, repressors, and enhancers.
  66. ribose
    a pentose sugar important as a component of ribonucleic acid
    However, the ribose sugar component of RNA is slightly different chemically than that of DNA.
  67. ribosome
    a particle in a cell that helps synthesize proteins
    Because mitochondria have their own DNA, RNA, and ribosomes, this scenario is quite possible.
  68. RNA
    a nucleic acid that helps synthesize proteins and transmit genetic data
    Because mitochondria have their own DNA, RNA, and ribosomes, this scenario is quite possible.
  69. RNA polymerase
    the enzyme that copies DNA into RNA
    Transcription

    Transcription, the synthesis of an RNA copy from a sequence of DNA, is carried out by an enzyme called RNA polymerase.
  70. Sachs disease
    a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
    Examples of recessive disorders in humans include sickle cell anemia, Tay-Sachs disease, and phenylketonuria (PKU).
  71. serine
    a sweetish crystalline amino acid involved in the synthesis by the body of cysteine
    For example, the amino acid serine is encoded by UCU, UCC, UCA, and/or UCG.
  72. sex chromosome
    a chromosome that determines the sex of an individual
    A particularly important category of genetic linkage has to do with the X and Y sex chromosomes.
  73. skin cell
    any of the cells making up the skin
    DNA mutations can also be introduced by toxic chemicals and, particularly in skin cells, exposure to ultraviolet radiation.
  74. somatic cell
    a cell that does not participate in reproduction
    Mutations that occur in somatic cells-any cell in the body except gametes and their precursors-will not be passed on to the next generation.
  75. telomere
    either (free) end of a eukaryotic chromosome
    These sequences are associated with chromosome structure and are found at the centromeres (or centers) and telomeres (ends) of chromosomes.
  76. thymine
    a base found in DNA and derived from pyrimidine
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  77. type AB
    the blood group whose red cells carry both the A and B antigens
    So, the possible allele combinations result in a particular blood type in this way:
    OO = blood type O
    AO = blood type A
    BO = blood type B
    AB = blood type AB
    AA = blood type A
    BB = blood type B

    You can see that a person with blood type B may have a B and an O allele, or they may have two B alleles.
  78. type B
    the blood group whose red cells carry the B antigen
    So, the possible allele combinations result in a particular blood type in this way:
    OO = blood type O
    AO = blood type A
    BO = blood type B
    AB = blood type AB
    AA = blood type A
    BB = blood type B

    You can see that a person with blood type B may have a B and an O allele, or they may have two B alleles.
  79. type O
    the blood group whose red cells carry neither the A nor B antigens
    Because blood type O is recessive, it is not apparent if the person inherits an A or B allele along with it.
  80. uracil
    a base containing nitrogen that is found in RNA (but not in DNA) and derived from pyrimidine; pairs with adenine
    For example, uracil takes the place of the thymine nucleotide found in DNA, and RNA is, for the most part, a single-stranded molecule.
  81. X chromosome
    the sex chromosome that is present in both sexes: singly in males and doubly in females
    There are numerous forms of this "repetitive DNA", and a few have known functions, such as stabilizing the chromosome structure or inactivating one of the two X chromosomes in developing females, a process called X-inactivation.
  82. X-linked
    relating to genes or characteristics or conditions carried on the X chromosome
    Both men and women can have X-linked traits because both inherit X chromosomes.
Created on 八月 23, 2011 (updated 八月 23, 2011)

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