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Genetics 102
LU Genetics Notes, Lewis and Adams
| Question | Answer |
|---|---|
| DNA | nucleic acid that makes up genes, stores genetic info, double helix, sugar, nitrogen and phosphate, dictates rate for protein building |
| RNA | single stranded, no nitrogen, transfers genetic info from DNA to location of protein synthesis |
| Chromosomes | humans have 23 pairs, one from mother and one from father |
| transcription | messenger RNA synthesized from single stranded DNA |
| translation | transfer RNA arranges the amino acids in the correct sequence to assemble protein |
| Mitosis | cell division where chromosomes duplicate to create 2 identical daughter cells |
| meiosis | cell division where number of chromosomes is reduced by half |
| Autosomal dominant disorders | mutation of SINGLE gene pair on chromosome, 50% chance of having disease, may skip generation (incomplete penetration), usually less severe then recessive disorders, WILL have an affected parent |
| Autosomal Recessive disorders | mutation of TWO gene pairs on chromosomes, inherit one copy of recessive gene: carrier, inherit two have disease. 50% chance carrier, 25% chance have disease, WILL NOT have an affected parent |
| X-Linked Recessive Disorders | Mutation on the X chromosome, generally only males have disease (women have another good x), woman may be carriers. Most have unaffected parents |
| Multifactorial Inherited conditions | combination of genetic and enviromental, not well understood |
| Genetic Testing | analyzes chromosomes, genes, and gene products. All infants receive some sort of screening (heel stick) |
| Direct Testing | type of genetic testing, looks at DNA |
| Linkage Testing | looks for gene markings in at least two generations, type of genetic testing |
| Biochemical Testing | analyzes gene products such as enzyme and proteins, type of genetic testing |
| karyotyping | looks at form, size and arrangement of chromosomes |
| Gene Therapy | experimental technique used to replace or repair defective or missing genes |
| Vector | carrier, used to deliver gene inside of cell for gene therapy, usually a modified virus of some sort |
| Normal Immune Response | state of responsiveness to foreign microorganism and tumor proteins |
| antigen | substance that elicits an immune response (most are proteins) |
| antibody | proteins that identify and neutralize foreign objects, such as bacteria (aka immunoglobulins) |
| lymphoid organs | dumping ground, filter foreign materials brought by lympochytes - thymus gland, bone marrow, tonsils (larger in children), spleen and lymph nodes |
| Punnett Squares | used to determine probability of having a genetic disorder |
| mononuclear phagocytes | includes macrocytes and macrophages, capture antigens and bring it to lymphocytes, stimulates immune response |
| Types of lymphocytes | include B and T lymphocytes, T cytotoxic cells, T helper cells, and Natural killer cells |
| Lymphocytes | produce antibodies, some remain as memory cells, stimulate phagocytosis, recognize and kill virus infected cells and tumor cells, produced in bone marrow |
| Atopic Reactions | type of hypersensitivity reaction (IgE mediated), allergic rhinitis, asthma, atopic dermatitis, urticareia, angioedema 20% of population have inherited tendency to be allergic to environment |
| anaphylaxis reaction | type of hypersensitivity reaction, mediators are released systemically, reaction can occur within minutes can be life threatening |
| Hypersensitivity Reactions | First exposure to allergen, IgE antibodies are produced and bind to mast cell (basophils), subsequent exposures lead to histamine response |
| Autoimmune Disorder | body attacks itself, genetics and age are a factor, Seen in more women, Sometimes preceded by a virus |
| Most Common Organ Transplants | corneas, kidneys, skin, bone marrow, heart, liver, heart valves, bone and connective tissues |
| Immunosuppressive Therapy | medications used to suppress immune system, used for Autoimmune disorders and Organ Transplants, goal is to prevent rejection of organ while still maintaining sufficient immunity to prevent overwhelming infections |
| Antihistamines | compete for histamine receptor sites and block effects of histamine (antagonist) |
| sypathomimetic/decongestants | especially epinepherine which causes peripheral vasoconstriction and relaxation of bronchial smooth muscles |
| corticosteroids | suppress immune/allergic response |
| antipruritic drugs | provide relief from itching |
| mast cell stabilizers | inhibit release of histamine and leukotrienes from mast cells |
| leukotriene receptor antagonists | block leukotriene, reduces inflammatory response |
| immunotherapy | administer small titers of allergen in increasing strengths until hyposensitivity is achieved |
| immunosuppression | most often used to prevent transplant rejection, may be used for MS |
| Live attenuated Vaccines | weakened virus for injection- varicella, MMR |
| Inactivated Vaccine | Dead virus for injection - flu mist, Hep A |
| Active immunity | introduction of foreign substance which causes body to produce antibodies, takes time to develop but is long lasting |
| Natural Active Immunity | immunity resulting from disease |
| Acquired Active Immunity | immunity resulting from vaccine |
| Passive Immunity | antibodies introduced into the body, immediate but short lived *6 months |
| Natural Passive Immunity | antibodies introduced into an infant from the mother's placenta |
| Acquired Passive Immunity | antibodies introduced through administration of immunoglobulins (Hep B exposure from needlestick) |
| anaphylactic shock | begins as swelling and itching, followed by rapid, weak pulse, low bp, dilated pupils, dyspnea, possible cyanosis, bronchial edem, angioedema |
| Normal Immune Response | Defense, homeostasis, surveillance |
| antigen | substance that elicits an immune response, Most are made of proteins |
| Antibody | proteins that identify and neutralize foreign objects, such as bacteria. AKA Immunoglobulin (Ig) |
| Dendritic Cells | first response of immune system (surface), atypical shape with dendrites that form and retract. Capture antigens at site of contact with external enviroment |
| Human Genome Project | took 13 years, mapped all human genes |
| anergy | an immunodeficient condition characterized by lack of or diminished reaction to an antigen or a group of antigens |
| cell mediated immunity | immune response initiated through specific antigen recognition by t cells (fungus, virus (intercellular), chronic infections, tumors, TB) |
| cytokines | soluble factors secreted by wbs and a variety of other cells in the body |
| human leukocyte antigen | (HLA) system that consists of a series of linked genes that occur together in the sixth chromosome of humans. , present on all nucleated cells and platelets |
| humoral immunity | antibody mediated immunity (humoral means body fluid) - b lymphocytes (viruses (extracellular) Respiratory and GI Pathogens) can cause anaphylactic shock |
| autosome | any chromosome that is not a sex chromosome |
| Defense as part of immune response | body protects against invasions by microorganisms and prevents the development of infection by attacking foreign antigens and pathogens |
| Homeostasis as part of immune response | damaged cellular substances are digested and removed. Through this mechanism, the body's different cell types remain uniform and unchanged |
| Surveillance as part of immune response | mutations continually arise in the body by are normally recognized as foreign cells and destroyed |
| Langerhans cells | type of dendritic cell, part of the lymp system in the skin |
| Two important functions of Lymph nodes | a) filtration of foreign material brought to the site b) circulation of lymphocytes |
| a. Steps in the immune response | a. virus invades the body an makes its way into a cell to replicate |
| b. Steps in immune response | b. macrophage recognizes the antigen on the virus surface, eats it and displays antigens on the outside. |
| c. steps in immune response | c. T helper cells recognize it and bind to it. Produces cytokines |
| d. steps in immune response | d. the cytokeine tells other t cells to multiply, and tells b cells to multiply and produce antibodies |
| e. steps in immune response | e. T cells and natural killer cells destroy infected body cells |
| f. steps in immune response | f. antibodies bind to virus and mark it for macrophages to eat |
| g. steps in immune response | g. memory b and t cells remain to respond if same virus attacks again |
| Wheal and flare reaction | localized anaphylactic reaction. not dangerous, think mosquito bite |
| biologic response modifiers | agents that boost specific functions of the immune system, type of cytokine |
| interferons | type of cytokines secreted by lympocytes and macrophages infected with a virus, slow spread of the virus and enhance leukocytes |
| interleukins | type of cytokine, widespread effects on the immune system |
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