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88 Cards in this Set
- Front
- Back
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Nondisjunction
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failure of homologous or daughter chromosomes to separate during meiosis I and II
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Trisomy
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One more chromosome than usual (47)
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Monosomy
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One less chromosome than usual
(46) |
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Deletion
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Change in chromosomes structure in which the end of a chromosome breaks off, or two simultaneous breaks lead to the loss of an internal segment; often causes abnormalities
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Duplication
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Change in chromosome structure in which a particular segment is present more than once in the same chromosome
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Inversion
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Change in chromosome structure in which a segment of a chromosome is turned around 180 degrees, this reversed sequence of genes can lead to altered gene activity and abnormalities
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Translocation
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Movement of a chromosomal segment from one chromosome to another nonhomologous chromosome, leading to abnormalities; down syndrome
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Turner syndrome, what set of chromosomes?
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XO
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Klinefelter syndrome, what set of chromosomes?
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XXY
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allele
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Alternative form of a gene; alleles occur at the same locus on homologous chromosomes
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Locus
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Particular site where a gene is found on a chromosome. Homologous chromosomes have corresponding gene loci
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Gamete
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Haploid sex cell; the egg or a sperm, which join in fertilization to form a zygote
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Monohybrid cross
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Individual is heterozygous for one trait
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Dihybrid cross
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Individual is heterozygous for two traits
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Autosomal
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Any chromosome other than the sex chromosome
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Preimplantation genetic
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Refers to procedures that are performed on embryos prior to implantation, sometimes even on oocytes prior to fertilization
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Polygenic
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controlled by the alleles of two or more genes, without the influence of the environment.
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Multifactorial
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controlled by both genes and the environment. Intelligence is multifactorial, with strong influences from both genes (such as those controlling nerve-cell growth and connectivity) and the environment (such as early childhood nutrition and education).
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Incomplete dominance
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Inheritance pattern in which the offspring has an intermediate phenotype, as when a red-flowered plant and a white-flowered plant produce pink-flowered offspring
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Codominance
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Inheritance pattern in which both alleles of a gene are equally expressed
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Multiple allele inheritance
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Inheritance pattern in which there are more than two alleles for a particular trait; each individual has only two of all possible alleles
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Sex-linked (X-linked)
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Allele that occurs on the sex chromosomes but may control a trait that has nothing to do with the sex characteristics of an individual
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How is a dihybrid cross shown on a punnet square?
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Since each dihybrid can form four possible types of gametes, four different phenotypes occur among the offspring in the proportions shown on a punnett square
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only individuals with the alleles aa will have the disorder
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What would indicate an autosomal recessive disorder?
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They are autosomal recessive disorders so two recessive (aa) alleles are required for them to appear
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How are Tay-Sachs disease, cystic fibrosis, PKU, and sickle cell disease inherited?
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Inheritance of only one dominant allele is necessary for an autosomal dominant genetic disorder to appear
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How are Marfan syndrome and Huntington disease inherited?
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Define DNA
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Nucleic acid polymer produced from covalent bonding of nucleotide monomers that contain the sugar deoxyribose; the genetic material of nearly all organisms
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Define Nucleotide
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Monomer of DNA and RNA consisting of a 5-carbon sugar bonded to a nitrogen-containing base and a phosphate group
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Prior to Meosis/Mitosis and during prokaryotic fission in prokaryotic cells
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When does DNA replication occur?
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DNA polymerase
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An enzyme that catalyzes the polymerization of deoxyribonucleotides into a DNA strand
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Mutation
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Alteration in chromosome structure/number or an alteration in a gene due to a change in DNA composition
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It is a nucleic acid produced from covalent bonding of nucleotide monomers that contain the sugar ribose
Ribosomal RNA (rRNA): Type of RNA found in ribosomes where protein synthesis occurs Messenger RNA (mRNA): Type of RNA formed from a DNA template that bears coded information for the amino acid sequence of a polypeptide Transfer RNA (tRNA): Type of RNA that transfers a particular amino acid to a ribosome during protein synthesis; at one end, it binds to the amino acid, and at the other end it has an anticodon that binds to an mRNA codon |
How is RNA produced and what are the three types?
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DNA polymerase
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An enzyme that catalyzes the polymerization of deoxyribonucleotides into a DNA strand
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Mutation
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Alteration in chromosome structure/number or an alteration in a gene due to a change in DNA composition
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Protein
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Molecule consisting of one or more polypeptides
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Gene expression
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The process by which information from a gene is used in the synthesis of a functional gene product
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Enzyme
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are proteins that catalyze chemical reactions
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Transcription
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Process whereby a DNA strand serves as a template for the formation of mRNA
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Translation
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Process whereby ribosomes use the sequence of condons in mRNA to produce a polypeptide with a particular sequence of amino acids
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Triplet code
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Each sequence of three nucleotide bases in the DNA of genes stands for a particular amino acid
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Codon
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Three-base sequence in mRNA that cause the insertion of a particular amino acid into a protein or termination of translation
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Anticodon
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Three-base sequence in a tRNA molecule that pairs with a complimentary codon in mRNA
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RNA polymerase
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During transcription, an enzyme that joins nucleotides complementary to a DNA template
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Intron
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is a DNA region within a gene that is not translated into protein
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Exon
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is a nucleic acid sequence that is represented in the mature form of an RNA molecule after either portions of a precursor RNA (introns) have been removed by cis-splicing or when two or more precursor RNA molecules have been ligated by trans-splicing
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During replication, the double-stranded structure of DNA allows each original strand to serve as a template for the formation of a complementary new strand. DNA replication is termed semiconservative because each new double helix has one original strand and one new strand
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How does a cell produce two new DNA molecules from one when it divides?
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DNA polymerases are best-known for their role in DNA replication, in which the polymerase "reads" an intact DNA strand as a template and uses it to synthesize the new strand. This process copies a piece of DNA.
The newly-polymerized molecule is complementary to the template strand and identical to the template's original partner strand. DNA polymerases use a magnesium ion for catalytic activity |
What is the specific function of DNA polymerase?
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The rRNA has the triplet code, the tRNA has the anticodon, and the mRNA has the codon
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What type of molecule (RNA) has the triplet code? The codon? The anticodon?
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Ex vivo: curing the genetic disorder by inserting the "good" normal gene
In vivo: Using the adenovirus (normally infects cells in the lungs) as a vector to carry "good" CF gene |
What is the difference: Ex vivo gene therapy vs In vivo gene therapy
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ribozyme (an RNA enzyme)
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The splicing of mRNA is done by a complex composed of both RNA and protein. What is the enzyme used?
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Recombinant DNA
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DNA that contains genes from more than one source (different types of organisms)
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Transgenic organism
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Free-living organism in the environment that has a foreign gene in its cells
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Plasmid
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Self-replicating ring of accessory DNA in the cytoplasm of bacteria
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Restriction Enzyme
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Bacterial enzyme that stops viral reproduction by cleaving viral DNA; used to cut DNA at specific points during production of recombinant DNA
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DNA ligase
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Enzyme that links DNA fragments; used during production of rDNA to join foreign DNA to vector DNA
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Polymerase chain reaction
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Technique that uses the enzyme DNA polymerase to produce millions of copies of a particular piece of DNA
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GM
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Alteration of DNA for medical or industrial purposes
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Xenotransplantation
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Use of animal organs, instead of human organs, in human transplant patients
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They are 25,000 genes in the human genome. We know this by the Human Genome Project
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How many genes are in the human genome? How do we know this?
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Gene Therapy which is the insertion of DNA into people to cure generic disorders is the most advance medical treatment available for ADA
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What is the latest, most advanced medical treatment available for ADA ("bubble babies")?
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Adds genes from one type of organism to another. It works because improves agricultural traits; improved food quality traits
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What is recombinant DNA? Why does this technology work?
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Restriction enzymes restrict the growth of viruses, but they also act as molecular scissors to cleave any piece of DNA at a specific site. DNA ligase seals foreign DNA into the opening created in the plasmid
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How does a restriction enzyme work? What does DNA ligase do?
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polymerase chain reaction (PCR) technology
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By the use of DNA polymerase, the enzyme that carries out DNA replication, and a supply of nucleotides for the new DNA strands, this process amplifies DNA for use in forensics and medical tests
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To identify a suspected rapist, identify convicted criminals, identify remains of bodies
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What are the specifics applications of DNA technology in forensics (the law)?
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Yes they are. 50% of the corn, 85% of the soybeans, and 75% of the cotton
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Are GM crops currently grown in the United States?
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insulin, clotting factor VIII, human growth hormone, t-PA, and hepatitis B vaccine
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What kinds of biotechnology products come from transgenic bacteria?
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antibody made by corn can deliver radioisotopes to tumor cells, and soybeans may be developed to treat genital herpes
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What kinds of biotechnology products come from transgenic plants?
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Prions
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An infectious particle that is the cause of diseases, such as scrapie in sheep, mad cow disease, and Creutzfeldt-Jakob disease in humans; it has a protein component, but not nucleic acid has yet been detected
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Lymph
Lymphatic vessels |
n immune system fluid that helps collect unwanted materials for removal from the body
Lymphatic vessels: are thin walled, valved structures that carry lymph |
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Red bone marrow
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Blood-cell forming tissue located in the spaces within spongy bone
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Thymus gland
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Lymphatic organ, located along the trachea behind the sternum, involved in the maturation of T lymphocytes in the thymus gland. Secrets hormones called thymosins, which aid the maturation of T cells and perhaps stimulate immune cells in general
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Lymph node
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Mass of lymphatic tissue located along the course of a lymphatic vessel
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Histamine
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Substance, produced by basophils in blood and mast cells in connective tissue, that causes capillaries to dilate
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Inflammatory response
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Tissue response to injury that is characterized by redness, swelling, pain, and heat
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Macrophages
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Large phagocytic cell derived from a monocyte that ingests microbes and debris
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Compliment system
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Series of proteins in plasma that form a nonspecific defense mechanism against a microbe invasion; it complements the antigen-antibody reaction
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B Cells
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Lymphocyte that matures in the bone marrow and , when stimulated by the presence of a specific antigen, gives rise to antibody-producing plasma cells
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T Cells
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Lymphocyte that matures in the thymus. Cytotoxic T cells kill antigen-bearing cells outright; helper T cells release cytokines that stimulate other immune system cells
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Antibody
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Protein produced in response to the presence of an antigen; each antibody combines with a specific antigen
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Antigen
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Foreign substance, usually a protein or a polysaccharide, that stimulates the system to produce antibodies
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Antigen-presenting cell
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Cell that displays the antigen to the cells of the immune system so they can defend the body against that particular antigen
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Cytotoxic T cells
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T cell that attacks and kills antigen-bearing cells
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Active immunity
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Resistance to disease due to the immune system's response to a microorganism or a vaccine
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Passive immunity
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Protection against infection acquired by transfer of antibodies to a susceptible individual
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Immunization
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Use of a vaccine to protect the body against specific disease-causing agents
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Allergies
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Immune response to substances that usually are not recognized as foreign
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Tissue rejection
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occurs when a transplanted organ or tissue is not accepted by the body of the transplant recipient
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Autoimmunity
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is the failure of an organism to recognize its own constituent parts as self, which allows an immune response against its own cells and tissues
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