Term
| Name the 3 components of a cell? |
|
Definition
| Nucleus, cytoplasm, plasma membrane |
|
|
Term
| Name the 6 parts of the cytoplasm? |
|
Definition
| Mitochondria, ribosomes, endoplasmic reticulum, gogli apparatus, lysosomes, cytoskeleton |
|
|
Term
|
Definition
|
|
Term
| Rough endoplasmic reticulum |
|
Definition
| Responsible for protein synthesis |
|
|
Term
|
Definition
|
|
Term
| Responsible for the breakdown of products with in a cell and ready to ship out? |
|
Definition
|
|
Term
| Holds everything together? |
|
Definition
|
|
Term
| Aids in moving the cell along, passing substances over the surfaces of a cell? |
|
Definition
|
|
Term
| Intercellular connection between 2 adjoining cells. They communicate and transport? |
|
Definition
|
|
Term
| This is considered the command center and is an essential part of most living things? |
|
Definition
|
|
Term
| What does the nucleus contain? |
|
Definition
| DNA, RNA, and nuclear proteins |
|
|
Term
| Border that separates the nucleus from the cytoplasm? |
|
Definition
|
|
Term
| Condensed nuclear material? |
|
Definition
|
|
Term
| Site of ribosome production? |
|
Definition
|
|
Term
| What is restructured during mitosis into chromosomes? |
|
Definition
|
|
Term
| What plays a role in the expression of genes? |
|
Definition
|
|
Term
| Part of gene expression, Transcription is responsible for? |
|
Definition
|
|
Term
| Part of gene expression, what is the process of protein synthesis? |
|
Definition
|
|
Term
| The cytoplasm is all the substance of a cell outside the nucleus. Identify it’s parts? Amorphous matrix? |
|
Definition
|
|
Term
| Contains the mitochondria, ribosomes, endoplasmic reticulum, gogli apparatus, and lysosomes? |
|
Definition
|
|
Term
| Separates the cytoplasm from the extracellular fluid? |
|
Definition
|
|
Term
| Keeps the cell up and functioning, it is responsible for cell movement? |
|
Definition
|
|
Term
| Name 4 things about the mitochondria? |
|
Definition
| Surrounded by a double membrane, have a cristae, generate energy, are full of oxidative enzymes like cytochrome oxidase |
|
|
Term
| Responsible for synthesis of proteins for internal purposes? |
|
Definition
|
|
Term
| Responsible for protein synthesis for export? |
|
Definition
| Rough Endoplasmic Reticulum (RER) |
|
|
Term
| What is the function of the Smooth Endoplasmic Reticulum (SER)? |
|
Definition
| Catabolism, which is the metabolic degradation of drugs, hormones, and nutrients? |
|
|
Term
| Since catabolism is the function of the SER and it synthesizes steroid proteins, where would the SER be found? |
|
Definition
| LIV, adrenal cells and Leydig Cells |
|
|
Term
| Where are Leydig cells found? |
|
Definition
| In the testes (produce androgen) |
|
|
Term
| What are membrane-bound digestive organelles? |
|
Definition
|
|
Term
| Brown pigment composed of oxidized lipids. They are undigested contents lysosomes and accumulate in aging tissues? |
|
Definition
|
|
Term
| Consists of 3 types of filaments that vary in diameter and chemical composition. They keep the cell up by functioning? |
|
Definition
|
|
Term
| Considered the highway of the cell. They are composed of tubulin and are 22nm? |
|
Definition
|
|
Term
| Responsible for the movement of the cell, are 5nm, and contain actin and myosin? |
|
Definition
|
|
Term
| Composed of cell specific proteins, serve different functions and are 10nm? |
|
Definition
|
|
Term
| Outer cell surface with a selective permeable membrane that has an electric charge. It is the lipid bylayer with inserted glycolipids and glycoproteins and contain hydrophilic heads and hydrophobic tails? |
|
Definition
|
|
Term
| The hydrophilic heads point toward? |
|
Definition
|
|
Term
| The hydrophobic heads point toward? |
|
Definition
|
|
Term
| Cell produces a substance that has an effect on the cell that just produced the substance? |
|
Definition
|
|
Term
| Cell produces a substance that has an effect on a neighboring cell but does not enter the blood stream? |
|
Definition
|
|
Term
| Cell produces a substance that travels through blood vessels to have an effect on a distant cell? |
|
Definition
|
|
Term
| When a cell cannot adapt to an injury it is called? |
|
Definition
|
|
Term
| There is hypofunction, and there is cellular swelling? |
|
Definition
|
|
Term
| Both hyperfunction and hypofunction, then necrosis and cell death? |
|
Definition
|
|
Term
| In cellular swelling (reversible cell injury), identify the process? |
|
Definition
| Normal microvilli, swollen microvilli, invagination of the cell membrane, swollen mitochondria and dialated RER, loss of desmosomes (intercellular contact) |
|
|
Term
| What does cellular swelling cause? |
|
Definition
| Changes in the cell membrane permeability |
|
|
Term
| What causes the change in the permeability of the cell membrane? |
|
Definition
| Swollen mitochondria (Na+ K+ ATP pump doesn’t produce enough ATP) |
|
|
Term
| With reversible cell injury are there any changes in the nucleus? |
|
Definition
|
|
Term
| What is the process of irreversible cell injury? Condensation of the nuclear material? |
|
Definition
|
|
Term
| Fragmentation of nuclear material that has condensed down? |
|
Definition
|
|
Term
| Dissolution of the nuclear structure as a result of enzymatic digestion? |
|
Definition
|
|
Term
| Are there any nuclear changes in irreversible cell death? |
|
Definition
|
|
Term
| Name the 5 causes of cell injury, in which any disease can be attributed to? |
|
Definition
| Hypoxia/anoxia, toxins, microbes, inflammation and immune reactions, genetic/metabolic disorders |
|
|
Term
| What does hypoxia/anoxia mean? |
|
Definition
| Hypoxia- Decrease oxygen. Anoxia- No Oxygen |
|
|
Term
| What are the major causes for hypoxia/anoxia? |
|
Definition
| Airway obstruction, LU pathology, Cardiovascular pathology, inability for tissue to use oxygen |
|
|
Term
| What are oxygen radicals? |
|
Definition
| Altered form of oxygen causing injury to tissues |
|
|
Term
|
Definition
| Hydrogen peroxide, superoxide, hydroxyl radical |
|
|
Term
| What is a reperfusion injury? |
|
Definition
| Anoxia state by thrombus and thrombus is removed. Reprefusion takes place when all of the blood vessels that were collecting behind the thrombus are free and too forceful. They damage the nucleus and become necrotic. |
|
|
Term
| Heavy metals such as mercury or lead? |
|
Definition
|
|
Term
| Metabolized into a different substance that causes cell injury, such as Carbon Tetrachloride cc4 is metabolized in the LIV to carbon trichloride CC3 which is more toxic? |
|
Definition
|
|
Term
| Not toxic unless it exceeds a certain level? |
|
Definition
|
|
Term
| Identify the microbial pathogen? Produces toxins? |
|
Definition
|
|
Term
| Kills cells from within (direct or indirect cytopathic effect)? |
|
Definition
|
|
Term
| Uses the protein synthesis of an actual cell to use proteins to injure the cell? |
|
Definition
|
|
Term
| Occur after prolonged exposure to adverse or exaggerated normal stimuli? |
|
Definition
|
|
Term
| Name the main forms of cell adaptations? |
|
Definition
| Atrophy, hypertrophy and hyperplasia, metaplasia, intercellular accumulations |
|
|
Term
| Normal cells become different kind of cells to make it a more adaptive cell (ie chronic acid reflux will change a cell) |
|
Definition
|
|
Term
| Normal cells undergo metaplasia and change to not being able to resemble one another. It is a cancerous precursor? |
|
Definition
|
|
Term
| dentify the adaptive cell? Decrease in the size of a cell, tissue, organ, or entire body? |
|
Definition
|
|
Term
|
Definition
| Physiological and predictable such as atrophy of thymus after puberty and aging, or pathologic caused by a lack of nutrition, chronic (lack of blood flow) ischemia, denervation, inactivity |
|
|
Term
|
Definition
| Hypertrophy (often combine with hyperplasia which is an increase in the number of cells) |
|
|
Term
| Give examples of hypertrophy of the HT and skeletal muscles? |
|
Definition
| HT=Hypertension, Skeletal muscles=bodybuilders |
|
|
Term
| Increased number of cells in a tissue or organ? |
|
Definition
|
|
Term
| What causes endometrial hyperplasia? |
|
Definition
|
|
Term
| Give 3 examples of hyperplasia? |
|
Definition
| Benign prostatic hyperplasia, callus (corn) on heels (from tight shoes), hyperplastic polyps of the intenstines |
|
|
Term
| Name 2 things that cause intracellular accumulations? |
|
Definition
| Exogenous materials and endogenous metabolites |
|
|
Term
| Exogenous pathology from coal particle accumulation in the LU’s? |
|
Definition
|
|
Term
| Name 2 endogenous metabolites? |
|
Definition
| Hemosiderin (Iron) and Lipids (Tay Sachs) |
|
|
Term
| Occurs when tissues undergo autolysis. Also referred to as brain death? |
|
Definition
|
|
Term
| Localized death of cells or tissues in a living organism. It is non programmed, exogenous and various cells.? |
|
Definition
|
|
Term
| Programmed death of single cells within a living organism? |
|
Definition
|
|
Term
| Most common form and can be seen in a myocardial infarction? |
|
Definition
|
|
Term
| Located in the brain and is a brain abscess? |
|
Definition
|
|
Term
| Looks like cottage cheese and seen in tuberculosis? |
|
Definition
|
|
Term
| een in acute pancreatitis? |
|
Definition
|
|
Term
| Necrotic tissue attracts calcium salts and becomes calcified such as atherosclerosis and damaged HT valaves? |
|
Definition
|
|
Term
| Hypercalcemia followed by deposition of calcium salts in normal tissues. Most common is hyperparathyroidism? |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Explain the circulatory changes that occur in inflammation |
|
Definition
a) Transient (temporary) vasoconstriction of arteriolar smooth muscles followed by vasodilatation (widening of blood vessels)
b) There is active hyperemia (increased blood flow)
c) Blood flow (circulation) in dilated capillaries and venules is slow which leads to congestion
d) There are hemodynamic changes where the RBC’s stack up (rouleaux formation) and further disrupt the circulation, leading to turbulent blood flow where the RBC’s travel the center and marginalize the white cells to the border where they become attached to the endothelial cells (1st layer of cells on the blood vessels). The process is called pavementing. |
|
|
Term
| What are the 4 changes of the vessel walls? |
|
Definition
a) Increased pressure inside the congested blood vessel
b) Slowing of circulation which reduces oxygen supply and nutrients to the endothelial cells.
c) Adhesion of leukocytes and platelets to endothelial cells
d) Release of soluble mediators of inflammation from inflammatory cells, platelets, endothelial cells and plasma |
|
|
Term
| Circulate in inactive form and must be transformed into an active form by an activator? |
|
Definition
|
|
Term
| Preformed and stored in granules of platelets and leukocytes? |
|
Definition
| Cell Derived Mediator (Histamine) |
|
|
Term
| Mediators of inflammation are said to be biochemically diverse. What does this include? |
|
Definition
| Biogenic amines, peptides, and arachidonic acid derivatives |
|
|
Term
| Mediators of inflammation act on many cells and tissues. What does this mean? |
|
Definition
|
|
Term
| Histamine (early in inflammation) |
|
Definition
| Biogenic amine that is released from platelets and mast cells. It provokes a contraction of the endothelial cells of venules which leads to the formation of gaps, which increase blood vessel permeability and allow fluids and blood cells to exit into the interstitial spaces. There is an immediate transient action (short/temporary)? |
|
|
Term
|
Definition
| Similar to the action of histamine. Formed in plasma through the activation of Hageman (coagulation factor) and induces pain? |
|
|
Term
|
Definition
| Group of plasma proteins produced by the LIV, circulating in inactive form. The activation is through a classical or alternative pathway, which leads to the formation of biologically active fragments, intermediate complexes, and terminal membrane attack complex? |
|
|
Term
| What is an example of a biologically active fragment that causes changes in cells? |
|
Definition
|
|
Term
| What is an example of a terminal membrane attack complex which is a group of proteins that come together and punch a hole through the plasma membrane? |
|
Definition
|
|
Term
| Facilitate phagocytosis of bacteria by marking foreign cells for destruction? |
|
Definition
|
|
Term
| Causes platelet cells and mast cells to release histamine with increased vessel wall permeability? |
|
Definition
|
|
Term
| Is the migration of leukocytes that cause movement of a cell thru a chemical gradient? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Name 2 pathways that Arachidonic acid derivatives are metabolized? |
|
Definition
Lipoxygenase pathway and cylocogenase pathway
Lipoxygenase pathway and cylocogenase pathway
Lipoxygenase pathway and cylocogenase pathway |
|
|
Term
| Facilitates chemostaxis, causes an increase in vascular permeability and causes bronchospasms? |
|
Definition
| Leukotrienes (Lipoxygenase pathway) |
|
|
Term
| Causes vasodilation, inhibition of neutrophil chemotaxis, and facilitates monocyte (macrophage in the blood stream) adhesion? |
|
Definition
| Lipoxins (lipoxygenase pathway) |
|
|
Term
| Causes platelet aggregation and thrombosis (clotting)? |
|
Definition
| Thromboxane (Cyclooxygenase pathway) |
|
|
Term
| Prevents platelet aggregation and thrombosis? |
|
Definition
| Prostacyclin (cyclooxygenase pathway) |
|
|
Term
| Cause smooth muscle contractions? |
|
Definition
| Prostaglandins (cyclooxygenase) |
|
|
Term
| Increased permeability of the vessel wall and increased hydrostatic pressure. They consist of no cells and low protein and typically accounts for the formation of edema? |
|
Definition
|
|
Term
| Contains a high number of inflammatory cells and more protein. It is the emigration of leukocytes? |
|
Definition
|
|
Term
| A consequence of chemotaxis (movement along the chemical gradient released by bacteria or other inflammatory cells), the leukocyte makes its way out of the endothelial gaps and into the tissues? |
|
Definition
|
|
Term
| Identify the steps of phagocytosis? |
|
Definition
a) Attachment of the opsonized bacterium to the PMN (Leukocyte/neutrophil)
b) Engulfment of the bacterium into an invagination of surface membrane is associated with an oxygen burst and formation of oxygen radicals that are bactericidal and thus kill the bacterium
c) Formation of the phagocytic vacule is associated with the fusion of the vacule with lysosomes and specific granules of the leukocyte, which a bactericidal cand contribute to the final inactivation and degradation of the bacterium. Degranulation of leukocytes |
|
|
Term
| a) Engulf other cells, bactericidal activity, facilitate phagocytosis? |
|
Definition
| PMN’s (Polymorphonuclear nutorphils (most common and a primary mediator in acute inflammation caused by bacteria) |
|
|
Term
| Activated by allergic reactions and a parasitic release of histamines? |
|
Definition
|
|
Term
| Activated parasitic release and is a biologically active substance? |
|
Definition
|
|
Term
| Engulf bacterial and fungal cells and is capable of phagocytosis? |
|
Definition
|
|
Term
| Consist of T cells and B cells and fight viral and fungal infections? |
|
Definition
|
|
Term
| Produce antibodies and immature B-cells? |
|
Definition
|
|
Term
| Thrombocytes and play a role in clotting. They release histamines? |
|
Definition
|
|
Term
| What are the classifications of inflammation? |
|
Definition
|
|
Term
| What are the classifications of inflammation? |
|
Definition
a) Acute or chronic?
Duration
b) Infectious, chemical, physical, or immune causes?
Etiology
c) Localized or widespread?
Location
d) Pathologic features |
|
|
Term
| Identify the pathological form of inflammation? |
|
Definition
a) Early stage of most inflammation and mildest form. Large amounts of fluid like swelling of joint or herpes virus, or pneumonia?
Serous inflammation
b) Caused from an overproduction of fibrine. It is a severe inflammation seen in bacterial infections such as strep throat or bacterial pneumonia. It is the main structure of blood clots?
Fibrinous inflammation
c) Caused by pus forming bacteria?
Purulent inflammation
d) Effects the epithelial lining (tissues)?
Ulcerative inflammation (Peptic ulcer)
e) Combination of ulcerative inflammation with fibrinopurulent exudation?
Pseudomembranous inflammation
f) Inflammation that lasts a long time?
Chronic inflammation
g) Caused from a granuloma?
Granulomatous inflammation |
|
|
Term
| Early stage of most inflammation and mildest form. Large amounts of fluid like swelling of joint or herpes virus, or pneumonia? |
|
Definition
|
|
Term
| Caused from an overproduction of fibrine. It is a severe inflammation seen in bacterial infections such as strep throat or bacterial pneumonia. It is the main structure of blood clots? |
|
Definition
|
|
Term
| Caused by pus forming bacteria? |
|
Definition
|
|
Term
| Effects the epithelial lining (tissues)? |
|
Definition
| Ulcerative inflammation (Peptic ulcer) |
|
|
Term
| Combination of ulcerative inflammation with fibrinopurulent exudation? |
|
Definition
| Pseudomembranous inflammation |
|
|
Term
| Inflammation that lasts a long time? |
|
Definition
|
|
Term
|
Definition
| Granulomatous inflammation |
|
|
Term
| Walled off infection enclosed in a capsule, with no access to the skin? |
|
Definition
| Abscess (needs to be drained) |
|
|
Term
| Walled off infection that does have access to the skin? |
|
Definition
|
|
Term
| 2 structures are interconnected that should not be interconnected? |
|
Definition
| Fistula (Most common in GI tract) |
|
|
Term
| Consists of lymphocytes, epithelioid cells (macrophages), and multinucleated giant cells. It is similar to an abscess as it tries to wall off the infection? |
|
Definition
|
|
Term
| What are the clinical features of inflammation? |
|
Definition
| Localized symptoms (Calor, Rubor, Tumor, Dolor, Functio Laesae), Systemic symptoms (Fever, Leukocytosis, constitutional symptoms) |
|
|
Term
| What is the pathogenesis of a fever caused by inflammation? |
|
Definition
| Leukocytes & macrophages produce active biological substances (TNF Tumor necrosis factor) and Interleukin 1 IL1) that signal to the hypothalamus to stimulate prostaglandin, which causes an upregulation of the thermostat. |
|
|
Term
| Name 2 forms of healing and repair? |
|
Definition
| Tissues regenerate or scar |
|
|
Term
| Continuously dividing cells |
|
Definition
| Cause regeneration of damaged tissue without scarring |
|
|
Term
| Quiescent falcultative mitotic cells |
|
Definition
| Not actively replicating but repilicate when they are needed and may or may not leave a scar |
|
|
Term
| Nondividing postmitotic cells |
|
Definition
| Will not replicate and are out of the cell cycle. Will leave a scar |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Facilitate phagocytosis and are clean up |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Clean edge wound by incision, edges of the wound are proximated and brought close together, less granulating tissue, no debris or foreign body while healing, and a smaller scar? |
|
Definition
| Wound healing by first intention |
|
|
Term
| Gaping wound with irregular borders and depth difference, defect does not close such as a scraped knee, there is more granulating tissue, wound is full of foreign bodies and bacteria, and there is a larger scar? |
|
Definition
| Wound healing by secondary intention |
|
|
Term
| Name 8 determinants of wound healing? |
|
Definition
| Site of wound, size of wound, mechanical factors, infection, circulatory status, nutritional and metabolic factors and age |
|
|
Term
| Identify the type of scar formation? |
|
Definition
Wound has healed but scar is not strong enough so it breaks open?
Dehiscence (Deficient scar formation) |
|
|
Term
Wound has healed but scar is not strong enough so it breaks open?
Dehiscence (Deficient scar formation) |
|
Definition
| Keloid (Excess scar formation) |
|
|
Term
| Excess scar tissue and skin around it becomes contracted? |
|
Definition
| Contractures (Excess scar formation) |
|
|
Term
| Name the 4 main stages in prenatal development? |
|
Definition
a) Preimplantation embreyonic stage (prior to implantation)
b) Germ layer formation (3 layers)
c) Early organogenesis (initial development of organs) |
|
|
Term
| What are the causes of congeintal defects in humans? |
|
Definition
a) Chromosomal Abnormalities?
2%
b) Infections?
2%
c) Chemicals?
1%
d) Genetic diseases?
20%
e) Unknown causes?
75% |
|
|
Term
|
Definition
| Harmful substances that cause damage to cells |
|
|
Term
| Name 3 exogenous teratogens? |
|
Definition
| Physical terotogens, chemical terotogens, microbial terotogens |
|
|
Term
|
Definition
a) Drugs, alcohol, industrial chemicals?
Chemical terotogens
b) Viruses, bacteria, protozoal parasites?
Microbial terotogens
c) X-rays, corpuscular radiation?
Physical Terotogens |
|
|
Term
| What is a group of microbial pathogens that can lead to congenital defects. It is a microbial tertogen? |
|
Definition
|
|
Term
| What does Torch stand for? |
|
Definition
| Toxoplasmosis, Others (Epstein Barr, Listeria, Leptospira), Rubella, Cytomegalovirus, Herpes Virus |
|
|
Term
| What is most often affected in Torch Syndrome? |
|
Definition
|
|
Term
| Name 6 pathologies of the brain from Torch Syndrome? |
|
Definition
| Mental Retardation, Microcephally, Hydrocephalus (Dilation of the lateral ventircles), Microphthalmia, Choriorentinitis (Calicifications of the eyes) Cataract (Clouding of the lens) |
|
|
Term
| What are the physical pathologies of Congenital Rubella Syndrome? |
|
Definition
| Microcephally, HT Disease, Petechia and purpura, and Eye abnormalities such as cataracts, glaucoma, strabismus, nystagmus, microaphlamia, and iris dysplasia |
|
|
Term
| Name 2 types of chromosomal anomalies? |
|
Definition
| Structural (structure of the chromosome is affected) and numerical (Number of chromosomes is not correct) |
|
|
Term
| Identify 2 kinds of structural chromosomal abnormalities? |
|
Definition
|
|
Term
| This structurasl abnormality describes 2 chromosomes that are close together and switch places (Switching out)? |
|
Definition
|
|
Term
| This structural abnormality describes a section of a chromosome that is missing? |
|
Definition
|
|
Term
| Identify 2 kinds of numerical chromosomal abnormalities? |
|
Definition
|
|
Term
| This numerical chromosomal abnormality has only 1 copy of chromosomes rather than 2? |
|
Definition
|
|
Term
| his numerical chromosomal abnormality has 3 copies of chromosomal 21? |
|
Definition
|
|
Term
| Does Trisomy 21 effect the sex chromosome? |
|
Definition
|
|
Term
| What chromosome is the sex chromosome? |
|
Definition
|
|
Term
| What is another name for trisomy 21? |
|
Definition
|
|
Term
| Name the physical features of downs syndrome? |
|
Definition
| Mental retardation, unique facial features such as a prominent inner canthus, eye abnormalities, gaping mouth and a large tongue, HT diseases, hand abnormalities (Simean crease- abnormal line across hand), abnormalties of toes (enlarged space b/n 1st and 2nd toes) |
|
|
Term
| Give 2 examples of diseases from abnormalities of the sex chromosomes? |
|
Definition
| Turners Syndrome and Klinefelters syndrome |
|
|
Term
| When a problem occurs in the sex chromosome, where does the abnormality take place? |
|
Definition
|
|
Term
Which sex chomosome abnormality am I referring to?
a) Ovum = XX 0, Y sperm fertilizes 2 x chromosomes, Result= XXY Y0? |
|
Definition
|
|
Term
| Ovum = XX 0, X chromosome fertilizes ovum without a chromosome, result= X0 XXX |
|
Definition
|
|
Term
| List 9 significant things about Turners syndrome? |
|
Definition
| Genetically female, Short stature, HT shaped face, Webbing of neck, HT disease, Broad Cheast (with widespread nipples), Cubitus Valgus (Orthopedic Abnomalities), Streak ovaries (Very small & non functional sex organs) Hypoplastic (small) Uterus, Amenorhhea |
|
|
Term
| List 7 significant things about those with Kilinefelters syndrome? |
|
Definition
| Genetically male, Tall with long arms and legs, lack of hair (Beard, body or pubic), Gynecomatia (man boobs), Femalelike hips, testicular atrophy (infertility) |
|
|
Term
| Name 4 single gene defects? |
|
Definition
| Alleles, Homozygotes, Heterozygotes, Sex Chromosome linked genes |
|
|
Term
| Differenty alleles are the same, either dominant or recessive? |
|
Definition
|
|
Term
| Different alleles, 1 dominant and 1 recessive? |
|
Definition
|
|
Term
| 2 copies of an individual coding sequence of genetic code to express a particular trait? |
|
Definition
|
|
Term
| Particular allele affected are sex chromosomes that are linked? |
|
Definition
| Sex Chromosome-Linked Genes |
|
|
Term
| List the 4 types of Mendelian Inheritance? |
|
Definition
| Autosomal Dominant, Autosomal Recessive, Sex-Linked Recessive, Sex Linked Dominant (Rare) |
|
|
Term
| Both recessive genes must be present to have the disease? |
|
Definition
|
|
Term
| 1 of 2 alleles need to be effective to have the disease? |
|
Definition
|
|
Term
| 1 recessive gene must be present for the disease? |
|
Definition
| Sex Linked Dominant, this is rare |
|
|
Term
| Both alleles need to be present to have the disease? |
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Identify the following regarding a chart for autosomal inheritance?
Square? |
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| Identify 10 Autosomal Dominant Diseases? |
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| Huntington’s disease, Neurofibromatosis, Familial Polyposis Coli, Spherocytosis, Wilms Tumor, Adult Polycystic KID Disease, Familial Hypercholesterolemia, Osteogenesis Imperfecta, Achondroplastic Dwarfism, Marfan’s Syndrome |
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| Which Autosomal Dominant Disease is caused from a defect in collagen synthesis? |
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Identify the Autosomal Dominant disease by the Affected organ/tissue?
a) Connective tissue? |
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| Achondroplastic Dwarfism and Osteogenesis Imperfecta |
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| Familial Hypercholesterolemia |
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| Adult Polycystic KID disease and Wilm’s Tumor |
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| Huntingtons Disease and Neurofibromatosis |
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| Which autosomal dominant disease consists of a pathological defect in the LDL receptor (bad cholesterol) causing an abnormal increase in Low Density Lipoprotein (LDL) |
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| Familial Hypercholosterolemia |
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| Name 8 manifestations of Marfan’s Syndrome? |
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| Elongated head, Eye abnormalities, Aortic aneurisms with dissection and exsanguinations (bleeding), floppy mitral valve, vertebral deformity, long fingers (Arachnodactyly) |
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| Name 2 causes of death from Marfan’s syndrome |
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a) HT Failure from floppy mitral valve
b) Exsangunation |
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| Name 6 Autosomal Recessive Disorders? |
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| Cystic Fibrosis, Sickle Cell Anemia, Thalassemia, Tay-Sach’s Disease, Phenylketonuria, Albinism |
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| Explain the pathogenesis of Cystic Fibrosis? |
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| Defect in the chloride channels effecting the pancreas, Intestines of the fetus, and Bronchi of the Lu’s. The pathology of the pancreas involves a disruption in the catabolic process in which the Pt cannot absorb the nutrients and get a lack of nutrition. The malabsorption causes steatorrhea (Stool with high fat content). The pathology involving the intestines of the fetus is there is no first bowel (Meconium Illus). This will cause distention of the bowel and a possible rupture of the meconium peritnitus. The LU pathology comes from a change in the mucus in the LU which leads to recurrent pneumonia and can also cause Rt sided HT failure. All 3 of the pathologies can cause death. |
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| What is a Lysosomal Storage disease? |
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| There can either be a defect in the enzyme, where the lysosome gets filled with substrate and causes the enzyme to be nonfunctional or the enzymes function but the lysosomes cannot get rid of the substrates |
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| What is Phenylketonuria (PKU)( Autosomal Recessive Disease)? |
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| It is an abnormality in the metabolism of phenylalanine in which converting phenylalanine does not turn into Tyrosine, which would normally create dopamine, proteins, and melanin. Instead, it converts to phenylpyruvic acid, which leaves the affected in an acidodic state. |
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