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Ch 14 Genetics
Lewis Chapter 14 Genetics
| Question | Answer |
|---|---|
| More than _______ diseases are thought to be linked to mutated genes. | 4000 |
| What do we call the effort initiated in 1990 to map the 20,000 to 25,000 genes in a person’s genetic makeup? | The Human Genome project |
| The study of inheritance | Genetics |
| Why do we care about a Monk from the 1860s? | Gregor Mendel discovered how traits our passed from one generation to the next while experimenting with pea plants. |
| What are genes? | the basic units of heredity |
| What does any change in gene structure lead to? | a mutation that may alter the type and amount of protein produced. |
| What is a gene’s particular home on a chromosome called? | Locus |
| What is an allele? | One of two or more alternative forms of a gene that can occupy a particular chromosomal locus |
| What codes for a specific inherited characteristic? | an allele |
| What is a dominate allele? | the allele that is fully expressed |
| What is a recessive allele? | The allele that gets bullied by the dominate allele, so it just hides in the background. |
| What is the actual genetic makeup of a person called? | Genotype (the recipe) |
| What are the physical traits you can see in a person called? | phenotype (the cake) (you can Photograph the Phenotype) |
| Where are chromosomes located and how do they come? | In the nucleus in pairs |
| How many pairs of chromosomes are in the nucleus? | 23 |
| How many of the 23 pairs of chromosomes are homologous? | 22 |
| What are autosomes? | Any chromosome that is not a sex chromosome |
| What is the pair of chromosomes that is not considered homologous and autosomes? | the 23rd pair, sex chromosomes |
| What kind of chromosomes does a girl have? | two x chromosomes |
| What kind of chromosomes does a boy have? | an x and a Y chromosome |
| Each person gets _____ their chromosomes from their Mother and ______ from their father. | Half |
| What does DNA stand for? | Deoxyribonucleic acid |
| What is the function of DNA? | DNA stores genetic information and encodes the instructions for synthesizing specific proteins needed to maintain life. |
| What dictates the rate at which proteins will be made? | DNA |
| What are the four nitrogenous bases that make up DNA? | adenine, thymine, guanine, and cytosine |
| Which nitrogenous base is different in RNA? | RNA has uracil instead of thymine |
| How does RNA differ from DNA? | has uracil instead of thymine, single stranded instead of double helix |
| What is the function of RNA? | RNA transfers information from DNA to the proper location for protein synthesis and plays a critical role in the synthesis of proteins. |
| What are the two steps involved in making protein? | transcription and translation |
| What is the process by which mRNA is synthesized from a single strand of DNA? | Transcription |
| What is the process by which tRNA assembles proteins? | Translation |
| What kind of cell division results in the formation of genetically indentical daughter cells? | Mitosis |
| How does Meiosis differ from Mitosis? | Meiosis occurs only in sexual reproductive cells. The number of chromosomes is reduced, resulting in half the usual number of chromosomes. |
| How are oocytes and sperm cells different form other body cells? | They have contain only a single copy of each chromosome. Other body cells have duplicates of each chromosome. |
| In what cell division type does crossing over take place? | Meiosis |
| Genetic material exchange between two chromosomes in a cell is called what? | crossing over |
| What process is responsible for a greater diversity of the genetic makeup of the oocyte and sperm? | crossing over |
| What usually happens to pairs of chromosomes during meiosis? | they separate |
| What is it called if chromosome pairs do not separate like they are supposed to during meiosis? | nondisjunction |
| What is the result of nondisjunction? | The oocyte or sperm ends up with an abnormal number of chromosome. They will have two copies of the same chromosome or one chromosome may be missing. |
| Down syndrome and Turner’s syndrome are examples of what? | Disorders caused by chromosomal abnormalities. |
| What are the three classification of genetic disorders? | autosomal dominant, autosomal recessive, or sex-linked recessive disorders |
| What is the difference between an autosomal and X-linked disorder? | Autosomal if mutated gene is on an autosome. X-linked if the mutated gene is on the x chromosome. |
| The process of moving information from the language of DNA into the language of amino acids is called? | Translation |
| The alleles PP for purple pea flowers or pp for what pea flowers are what? | homozygous |
| The alleles Pp are what? | Heterozygous |
| What causes autosomal dominant disorders? | a mutation of single gene pair on a chromosome |
| Autosomal dominant disorders show variable expression. What is variable expression? | The symptoms expressed by the individuals with the mutated gene vary from person to person even though they have the same mutated gene. |
| What is incomplete penetrance? | When a autosomal dominant disorder causes a new mutation or skips a generation |
| What are disorders caused by mutations of two gene pairs (homozygous) called? | autosomal recessive disorders |
| Why is it that usually only men are affected by X-linked recessive disorders? | because they only have one X (the other one is a Y) whereas women have XX |
| Diabetes mellitus, obesity, hypertension, cancer, and coronary artery disease are examples of what kind of genetic disorders? | Multifactorial inherited disorders – combination of genetic and environmental factors |
| What kind of genetic testing investigates the number, form, size, and arrangement of the chromosomes? | Karyotyping |
| What kind of genetic testing analyzes gene products like enzymes and proteins? | Biochemical |
| What kind of genetic testing examines the DNA for any mutations? | Direct testing |
| What kind of genetic testing looks for gene markers that cause disease in family members from at least two generations? | Linkage |
| Name two genetic disorders that all states routinely check newborns for. | phenylketonuria and congenital hypothyroidism |
| In what kind of prenatal genetic testing is a small amount of amniotic fluid removed? | Amniocentesis |
| In what kind of prenatal genetic testing is a small amount of tissue from the placenta tested? | Chronic Villus Sampling (CVS) |
| What is preimplantation genetic diagnosis (PGD)? | Genetic testing on fertilized embryos prior to implantation in order to ensure the embryo is free of certain disorders |
| What is gene therapy? | an experimental technique that is used to replace or repair defective or missing genes with normal genes |
| Currently gene therapy is only being tested on what kind of diseases? | diseases that have no other cure |
| Describe the first gene therapy trails. | Children with severe combined immunodeficiency disease caused by a lack of adenosine deaminase were injected with their own T-cells that had been altered to contain the missing gene. |
| What are some of the diseases that may soon be treated by gene therapy in mainstream therapies? | hemophilia, ischemic vascular disease, and immunodifiency disease |
| What do scientist have to overcome before gene therapy can be introduced into mainstream medicine? | They need an improved way of delivering the gene to the target cells and to ensure that the body can control the new genes. |
| How are genes delivered? | by way of a vector, which is an attenuated virus |
| What are stem cells? | Cells that have the ability to differentiate into other cells |
| What are the two categories of stem cells? | embryonic and adult |
| Why are embryonic stem cells preferred for medical research? | because they have the ability to become one of any of the hundreds of types of cells in the human body |
| What is nuclear transfer or therapeutic cloning? | The nucleus of donor eggs is replaced with the nucleus of the desired tissue. As the egg divides 200-cell blastocyst of the desired tissue is created. |
| What is immunity? | a state of responsiveness to foreign substances such as microorganisms and tumor proteins. |
| What are the three functions of immune responses? | 1) Defense 2) Homeostasis 3) Surveillance |
| What kind of immunity do we get without ever being exposed to an antigen? | innate |
| What kind of immunity do we get when we get chicken pox? | Acquired |
| What are the main WBCs involved in innate immunity? | neutrophils and monocytes |
| What is the difference between active acquired immunity and passive acquire immunity? | Active – you came in contact with an antigen and now you are immune. Passive - someone else encounters an antigen and you benefit. |
| What is the downfall of passive acquired immunity through injection of gamma globulin (serum antibodies)? | It doesn’t last |
| What is an antigen? | a substance that elicits an immune response |
| What are the central lymphoid organs? | the thymus gland and bone marrow |
| What are the peripheral lymphoid organs? | the tonsils; gut-, bronchial-, and skin-associated lymphoid tissues; lymph nodes; and spleen |
| Where are lymphocytes produced? | in the bone marrow |
| What is the function of the thymus? | The thymus is important in the differentiation and maturation of T lymphocytes and therefore essential for cell-mediated immune response. |
| The skin can neither initiate an immune response nor support a skin-localized delayed hypersensitivity response without what kind of cell? | Langerhans cells |
| What are two functions of the lymph nodes? | filtration of foreign material brought to the site; circulation of lymphocytes |
| What organ is important as the primary site for filtering foreign substances from the blood? | the Spleen |
| What are the two tissues in the spleen and what kind of cells do they contain? | White pulp contains B and T lymphocytes. Red pulp contains erythrocytes. |
| _____________ line the pulp and sinuses of the spleen. | macrophages |
| What is the major site of immune responses to blood-borne antigens? | the spleen |
| What is the job of mononuclear phagocytes? | They are responsible for capturing, processing, and presenting the antigen to the lymphocytes. |
| The mononuclear phagocyte system includes ____________ in the blood and __________ found throughout the body. | monocytes, macrophages |
| Explain the role that mononuclear phagocytes play in initiating humoral (cell-mediated) immune response. | They phagocytize foreign antigens and present them to circulating T or B lymphocytes which triggers and immune response. |
| How do we get B and T lymphocytes? | They are born in the bone marrow and differentiate into b and t cells. |
| B cells differentiate into ________ ________. | Plasma Cells |
| What do cells that migrate from the bone marrow to the thymus gland become? | T- lymphocytes |
| What do plasma cells make? | Antibodies |
| Which antibody is the only immunoglobulin that crosses the placenta, responsible for secondary immune response, and the most plentiful in serum? | IgG |
| Which antibody is found in body secretions like tears, saliva, breast milk, and colostrums? | IgA |
| Which antibody is responsible for primary immune response and forms the antibodies to ABO blood antigens? | IgM |
| What antibody is present on lymphocyte surfaces and assists in the differentiation of B lymphocytes? | IgD |
| What antibody fixes to mast cells and basophils and assist in defense again parasitic infections? | IgE |
| Where does thymosin come from and what does it do? | Thymosin is a hormone produced by the thymus gland. It stimulates the maturation and differentiation of T Lymphocytes |
| What kind of cells are primarily responsible for immunity to intracellular viruses, tumor cells, fungi, and are responsible for long term immunity? | T Cells |
| What are two categories of T Lymphocytes? | T cytotoxic and T helper |
| What kind of cells work in humoral immunity? | B cells make antibodies |
| How is that a B cell know if something floating around in the body is an antigen? | B lymphocytes have antigen receptors on their cell surface. |
| What happens when a B lymphocyte receptor gets an antigen? | It becomes activated and makes antibodies. |
| How long after the initial exposure to antigen does it take for immune response to be evident? | 4-8 days |
| In primary exposure to an antigen which antibody is the first responder? | IgM |
| What is the difference between IgM and IgG antibodies? | I gM are big molecules that cannot squeeze out of the vascular space. IgG is smaller so it can work in the vessels and in extra-vascular spaces. |
| Once the humoral immune system has kicked a bad guy out of town and posted a wanted poster how does the second encounter go? | The response is faster (1 to 3 days), stronger, and lasts for a longer time. The first antibody is IgG and there is more of it. |
| How does IgG get from a mother to an infant and how long does the immunity it carries last? | IgG passes through the placenta and protects the baby for the first 3 months. |
| What kind of hypersensitivity reactions are induced by Exogenous pollen, food, drugs, and dust? | Type 1 IgE |
| What kind of hypersensitivity reactions are atopic reactions? | Type I IgE-mediated |
| What is atopic? | having an inherited tendency to become sensitive to environmental antigens |
| Of, relating to, or caused by a hereditary predisposition toward developing certain hypersensitivity reactions, such as hay fever, asthma, or chronic urticaria, upon exposure to specific antigens | Atopic |
| In what type of hypersensitivity reaction are histamines, mast cells, leukotrienes, and prostaglandins the cause of damage? | Type I IgE-mediated |
| In an IgE mediated reaction what happens the first time the body meets ragweed pollen? | A B cell finds it and makes lots of IgE antibodies |
| Where do IgE antibodies like to hang out? | They like to hang out with Mast cells especially and basophils too! |
| What do mast cells carry around in their granules? | Potent chemicals that mediate allergic reactions like histamine, serotonin, leukotrienes, eosinophil chemotactic factor of anaphylaxis, kinnens and bradykinnens. |
| What kind of cell carrys around granules of histamine, serotonin, leukotrienes, eosinophil, ECF-A, kinnens, and bradykinnens? | Mast cells |
| What happens the second time the body runs into ragweed pollen in a type I IgE mediated hypersensitivity reaction? | The ragweed pollen binds to the IgE antibodies attached to a mast cell. The mast cell releases all its nasty chemicals. |
| Contraction of smooth muscle, increased vascular permeability, vasodilation, hypotension, increased secretions of mucus, and pruritis are clinical symptoms of what? | Allergy reaction |
| What is the effect of mast cell chemical mediators on skin? | Uriticaria, Atopic dermatitis, Wheal and flare reaction, angioedema |
| What is the effect of mast cell chemical mediators on the respiratory system (2)? | Rhinitis and Asthma |
| What is the effect of mast cell chemical mediators on the GI system (4)? | Nausea, Vomiting, Cramping, Diarrhea |
| What test can be performed to check for type I Ige mediated hypersensitivity reactions? | Wheal and flare |
| What type hypersensitivity reactions are induced by antigens on the surface of RBCs or basement membrane? | Type II cytotoxic reactions |
| Who are the antibodies involved in type II cytotoxic reactions? | IgG and IgM |
| In what type of hypersensitivity reactions are complement lysis and macrophages in the tissue the reasons for damage? | Type II cytotoxic IgG and IgM mediated |
| Transfusion reaction, Good pasture syndrome, Autoimmune thrombocytopenic pupura, and Grave’s disease are examples of what type of hypersensitivity reactions? | Type II Cytotoxic IgG and IgM mediated |
| Rhinitis and Asthma are examples of what type of hypersensitivity reactions? | Type I IgE mediated |
| What kind of hypersensitivity reactions are induced by extracellular fungal, viral, and bacterial antigens? | Type III Immune Complex reactions IgG and IgM mediated |
| Systemic lupus erythematosus and Rhuematoid Arthritis are examples of what type of hypersensitivity reactions? | Type III Immune Complex reactions IgG and IgM mediated |
| Contact dermatitis and poison ivy are examples of what kind of hypersensitivity reaction? | Type IV Delayed Hypersensitivity Reaction |
| Name 9 drugs that are common causes of anaphylactic shock. | Penicillins, Sulfonamides, Insulins, Aspirin, Tetracycline, Local Anesthesia, Chemotherapeutic agents, Cephalosporins, NSAIDs |
| ANaPhyLACTICS | Aspirin, NSAIDs, ..a..Penicillins, ..hy..Local Anesthetics, Cephelosporins, Tetracycline, Insulins, Chemotherapeutic agents, Sulfonamides |
| What foods are common causes of anaphylactic shock (8)? | eggs, milk, nuts, peanuts, fish, seafood, chocolate and strawberries. |
| Name 3 treatments that are common causes of anaphylactic shock. | blood products, Iodine contrast media, allergenic extracts in hyposensitization therapy |
| A chronic, inherited skin disorder characterized by exacerbations and remissions. | Atopic dermatitis |
| A cutaneous reaction to a systemic allergen occurring in atopic persons. | Urticaria (Hives) |
| A localized cutaneous lesion similar to urticaria but involving deeper layers of the skin and submucosa | Angioedema |
| What kind of hypersensitivity reactions involve the direct binding of IgG or IgM to an antigen on the cell surface? | Type II Cytotoxic reactions |
| What kind of cells are the common targets of Type II Cytotoxic reactions? | erythrocytes, platelets, and leukocytes |
| What are the two things that cause tissue damage in type II cytotoxic reactions? | 1. Activation of the complement cascade resulting in cytolysis 2. Enhanced phagocytosis |
| What are hemolytic transfusion reactions? | a classic type II reaction occurs when a recipient receives ABO incompatible blood from a donor |
| What kind of antibodies does a person with type B blood have? | type A antibodies |
| What kind of antibodies does a person with type A blood have? | type B antibodies |
| What kind of antibodies does a person with type AB blood have? | Neither A nor B |
| What kind of antibodies does a person with type O blood have? | A and B antibodies |
| What is agglutination in hemolytic transfusion reactions? | Antibodies coat foreign erythrocyte causing agglutination or clumping |
| What happens in hemolytic transfusion reactions? | Agglutination blocks small blood vessels and uses existing clotting factors up, leading to bleeding. Cytlysis causes blood to be released in the plasma and urine. kidneys can fail. |
| What is Grave’s syndrome? | a disorder involving the lungs and the kidneys |
| Tissue damage in type II hypersensitivity reactions are secondary to what? | antigen-antibody complexes that are too small to removed by mononuclear phagocytes – so they get deposited in small blood vessels leading to inflammation and destruction of tissue. |
| What are some common substances that cause contact dermatitis? | metal compounds; rubber compounds; catchols present in poison ivy, poison oak, and poison sumac; cosmetics; and some dyes |
| How does tissue damage occur in type IV hypersensitivity reactions? | T lymphocytes release cytokines. Cytokines attract macrophages. Macrophages and the enzymes they release cause damage |
| What kind of hypersensitivity disorder is most frequently seen? | Type I allergic disorders |
| What does a thorough assessment of a person with allergies consist of ( 4 things)? | comprehensive patient history, physical examination, diagnostic workup, and skin testing for allergens |
| What is the main thing we need to know in order to control allergic reactions? | The allergen that caused the reaction |
| Name two common diagnostic test that are often done while assessing an allergy patient? | complete blood count with a WBC count and serology test |
| What does a lymphocyte count below 12000 microliters indicate? | cellular immunodeficiency |
| If blood work shows that the eosinophil count is up what kind of hypersensitivity is indicated? | Type I IgE mediated |
| Eosinophil count and what else would be higher in Type I reacations? | IgE |
| How is a scratch test done? | The epidermal layer is scratched and then the allergen is applied. |
| How is a prick test done? | A drop of allergen is placed on the skin first then the underlying epidermis is pricked |
| How is a intracutaneous test done? | Allergen extract is injected intradermally in rows |
| How soon will results to skin test be apparent if the patient is hypersensitive and how long might they last? | results within minutes, lasting from 8-12 hours |
| What test can be performed if our patient is too hypersensitive for skin testing? | RAST |
| What is the goal of therapy for a patient diagnosed with an allergic reaction? | Reduce exposure, Treat symptoms, desensitize the person through immunotherapy if possible |
| Name 5 principles in management of anaphylactic shock. | 1) Quickly recognize what’s going on. 2) Ensure patent airway 3)Prevent spread of allergen-tournequette remove stinger 4) drugs 5) treat for shock |
| Many allergic reactions especially asthma and urticaria can be aggravated by what? | Fatigue and stress |
| What are some environmental controls for allergies? | different job or climate, new home for Fido, sleeping in an air conditioned room, daily damp dusting, hypoallergenic bedding, wearing a mask outdoors |
| What are the major categories of drugs used for relief of allergies? | antihistamines, sympathomimetic/decongestants, corticosteroids, antipruritic drugs, mast-cell stabilizing drugs, leukotrienne receptor antagonists |
| Antihistamines are good for urticaria and rhinitis but not so much for _____? | severe allergic reactions |
| Antihistamines are good for edema and pruritus but not worth squat for what? | prevention of bronchoconstriction |
| How does Epinephrine (a sympathomemetic/decongestant) work to help a patient with anaphylaxis? | Stimulates alpha andrenergic receptors = vasoconstriction, Stimulates B recptors = relaxes bronchial smooth muscles, acts directly on mast cells so that they don’t release their packets of inflammation chemicals |
| Name two minor sympathomimetic drugs that are used for primarily for allergic rhinitis. | phenylephrine (Neosynephrine) and pseudoephedrine (Sudafed) |
| What is immunotherapy? | administration of small titers of allergen extract in order to help the patient develop hyposensitivity to the allergen |
| Why is HLA called the major histocompatability complex? | Because of its importance in tissue matching |
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