Test.txt

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Acolston
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92482
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Test.txt
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2011-06-29 23:41:59
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RBC
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First portion of lecture
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  1. Regulation of RBC Production - When ↓ RBCs present: → __?__ pO2 at kidney (both sensor and integrator). → __?__secretion of erythropoietin. → __?__ stimulation of bone marrow to produce RBCs. → __?__ RBCs (pO2).
    Regulation of RBC Production - When ↓ RBCs present: → ↓ pO2 at kidney (both sensor and integrator). → ↑ secretion of erythropoietin. → ↑ stimulation of bone marrow to produce RBCs. → ↑ RBCs (pO2)
  2. Regulation of RBC Production - When ↑ RBCs present: → __?__pO2 at kidney (both sensor and integrator) . → __?__ secretion of erythropoietin. → __?__ stimulation of bone marrow to produce RBCs. → __?__ RBCs (pO2). Other factors can affect this (__?__, __?__, __?__, __?__).
    Regulation of RBC Production - When ↑ RBCs present: → ↑pO2 at kidney (both sensor and integrator) . → ↓ secretion of erythropoietin. → ↓ stimulation of bone marrow to produce RBCs. → ↓ RBCs (pO2). Other factors can affect this (CO, hypoxia, COPD, sleep apnea).
  3. Erythropoiesis Essentials - Pyridoxine (B6) Functions: __?__ and __?__ metabolism. Conversion of __?__ to niacin (vitamin __?__). __?__ production. __?__ function.
    Erythropoiesis Essentials - Pyridoxine (B6) Functions: Protein and amino acid metabolism. Conversion of tryptophan to niacin (vitamin B3). RBC production. Neural function.
  4. Erythropoiesis Essentials - Pyridoxine (B6) Source: __?__ foods (meats, milk), __?__.
    Erythropoiesis Essentials - Pyridoxine (B6) Source: protein foods (meats, milk), grains
  5. Erythropoiesis Essentials Pyridoxine (B6) Deficiency: __?__, __?__ weakness
    Erythropoiesis Essentials Pyridoxine (B6) Deficiency: anemia, muscle weakness
  6. Erythropoiesis Essentials Folic Acid – __?__. Functions: Production of__?__. __?__ synthesis. Maintains normal__?__ level. Prevention of __?__ defects. Current recommendation (__?__µg/d): Important to recommend in preconception counseling. Food sources: “__?__” vegetables, enriched bread & grain products.
    Erythropoiesis Essentials Folic Acid – folacin. Functions: Production of RBCs. Protein synthesis. Maintains normal homocysteine level. Prevention of neural tube defects. Current recommendation (400µg/d): Important to recommend in preconception counseling. Food sources: “foliage” vegetables, enriched bread & grain products.
  7. Erythropoiesis Essentials Vitamin(B12) aka
    Cobalamin
  8. Erythropoiesis Essentials Vitamin(B12) Function:__?__ production. __?__ tissue production. __?__ mucosal tissue production. __?__ disease.
    Erythropoiesis Essentials Vitamin(B12) Function: red blood cell production. Nerve tissue production. GI mucosal tissue production. Multi system disease.
  9. Erythropoiesis Essentials pernicious anemia; neurological disorders
    Erythropoiesis Essentials Vitamin(B12) Deficiency – cobalamin
  10. Erythropoiesis Essentials Vitamin(B12) Source: __?__ products only. Vegan should take supplement. Absorption can be problem in due to (-) __?__ or __?__ absorption; take B12 shots
    Erythropoiesis Essentials Vitamin(B12) Source: animal products only. Vegan should take supplement. Absorption can be problem in due to ¯ intrinsic factor or GI absorption; take B12 shots
  11. Erythropoiesis In utero RBC production –
    Liver and spleen
  12. RBC production in bone marrow is __?__ dependent - Neonatal RBCs produced in the__?__. < 5 years, almost all bones produce RBCs to meet __?__ needs. > 5 years, bone marrow activity gradually __?__. > 20 years, RBC production mainly in the __?__, __?__, __?__, and __?__ (With this reduction in activity, the red bone marrow is replaced with __?__ bone marrow.)
    RBC production in bone marrow is age dependent - Neonatal RBCs produced in the red bone marrow. < 5 years, almost all bones produce RBCs to meet growth needs. > 5 years, bone marrow activity gradually decreases. > 20 years, RBC production mainly in the vertebrae, sternum, ribs, and pelvis (With this reduction in activity, the red bone marrow is replaced with fatty yellow bone marrow.)
  13. Summary of blood forming organs: Primary lymphoid organs (__?__, __?__). Secondary lymphoid organs (__?__, __?__)
    Summary of blood forming organs: Primary lymphoid organs (thymus, bone marrow). Secondary lymphoid organs (lymph nodes, spleen)
  14. Erythropoiesis Liver – contains phagocytic cells known as __?__ that act as a filter for damaged or aged cells in a manner similar to, but less efficient than the __?__ cells in the spleen.
    Erythropoiesis Liver – contains phagocytic cells known as Kupffer cells that act as a filter for damaged or aged cells in a manner similar to, but less efficient than the phagocytic cells in the spleen.
  15. Erythropoiesis: If the bone marrow cannot keep up with the physiologic demand for blood cells, or becomes diseased, the __?__ may resume production of RBCs that it began during fetal life. This is called __?__.
    Erythropoiesis: If the bone marrow cannot keep up with the physiologic demand for blood cells, or becomes diseased, the liver may resume production of RBCs that it began during fetal life. This is called extramedullary hematopoiesis.
  16. Erythropoiesis - Bone marrow – in __?__ bone. In a normal adult, ½ of the bone marrow is hematopoietically active (__?__) and ½ is inactive, fatty marrow (__?__).Red marrow contains both __?__ (RBC), __?__ (WBC) precursors and __?__ precursors. In certain pathologic states the bone marrow can become __?__ and increase its activity to __?__X its normal rate. This occurs in conditions where there is increased or ineffective __?__.
    Erythropoiesis - Bone marrow – in spongy bone. In a normal adult, ½ of the bone marrow is hematopoietically active (red marrow) and ½ is inactive, fatty marrow (yellow marrow).Red marrow contains both erythroid (RBC), leukocyte (WBC) precursors and platelet precursors. In certain pathologic states the bone marrow can become hyperplastic and increase its activity to 5-10X its normal rate. This occurs in conditions where there is increased or ineffective hematopoiesis.
  17. Erythropoiesis The degree of bone marrow becomes __?__ is related to the severity and duration of the pathology.
    Erythropoiesis The degree of bone marrow becomes hyperplasia is related to the severity and duration of the pathology.
  18. Pathologic states that cause this include: Acute blood loss - temporary replacement of the __?__. Severe chronic__?__ – erythropoiesis (RBC production) may increase to the extent that the marrow starts to __?__ the bone itself. Malignant disease – both normal red marrow and fatty marrow may be replaced by proliferating __?__.
    Pathologic states that cause this include: Acute blood loss - temporary replacement of the yellow marrow. Severe chronic anemia – erythropoiesis (RBC production) may increase to the extent that the marrow starts to erode the bone itself. Malignant disease – both normal red marrow and fatty marrow may be replaced by proliferating abnormal cells.
  19. Bone marrow hyperplasia: The hematopoietic tissue may also become __?__ or __?__. This may be due to: Chemicals & drugs __?__). Genetics. __?__ disease that replaces hematopoietic tissue with __?__ tissue.
    Bone marrow hyperplasia: The hematopoietic tissue may also become inactive or hypoplastic. This may be due to: Chemicals & drugs (iatrogenesis). Genetics. Myeloproliferative disease that replaces hematopoietic tissue with fibrous tissue.
  20. Red Blood Cell Destruction - The red blood cell has a life span of approximately __?__ days. It is broken down in the __?__. The degradation products (__?__ and __?__) are recycled. The heme molecule is converted to __?__ and transported to the __?__ (It is removed and rendered __?__ for elimination in the bile.) Direct or indirect (Conjugated or unconjugated.)
    Red Blood Cell Destruction - The red blood cell has a life span of approximately 90-120 days. It is broken down in the spleen. The degradation products (iron and amino acids) are recycled. The heme molecule is converted to bilirubin and transported to the liver (It is removed and rendered water soluble for elimination in the bile.) Direct (biliary stones) or indirect (Conjugated or unconjugated.)
  21. Function of the Red Blood Cell Transport of __?__ to the tissues. Hemoglobin binds some __?__ and carries it from the tissues to the lungs.
    Function of the Red Blood Cell Transport of oxygen to the tissues. Hemoglobin binds some carbon dioxide and carries it from the tissues to the lungs.
  22. The hemoglobin molecule is composed of __?__ of structurally different__?__. Each of the four polypeptide chains consists of a __?__ (protein) portion and __?__ (iron) unit, which surrounds an atom of iron that binds __?__. Each molecule of hemoglobin can carry __?__ molecules of oxygen.
    The hemoglobin molecule is composed of two pairs of structurally different polypeptide chains. Each of the four polypeptide chains consists of a globin (protein) portion and heme unit, which surrounds an atom of iron that binds oxygen. Each molecule of hemoglobin can carry four molecules of oxygen.
  23. Hemoglobin Molecule RBC Facts: __?__ new RBCs are formed every second. Composed of ~__?__% hemoglobin. Each RBC contains ~__?_270 million hemoglobin molecules. Typically __?__ x 106 cells per mm3 in normal human blood.
    Hemoglobin Molecule RBC Facts: Two million new RBCs are formed every second. Composed of ~90% hemoglobin. Each RBC contains ~270 million hemoglobin molecules. Typically 4-8 x 106 cells per mm3 in normal human blood.
  24. Genetics of the Red Blood Cell - The production of each type of globin chain is controlled by individual structural genes with five different __?__. __?__ can occur anywhere in these five loci.
    Genetics of the Red Blood Cell - The production of each type of globin chain is controlled by individual structural genes with five different gene loci. Mutations can occur anywhere in these five loci.
  25. MOLECULAR PATHOLOGY: Normal adult blood contain __?__ types of Hemoglobin. The major component is Hgb __?__ (α2 ß2). The minor components: Hgb __?__ (fetal hemoglobin) (α2 γ 2) AND Hgb __?__ (α2 d2)
    MOLECULAR PATHOLOGY: Normal adult blood contain 3 types of Hemoglobin. The major component is Hgb A (α2 ß2). The minor components: Hgb F (α2 γ 2) AND Hgb A2 (α2 d2)
  26. Hgb in adult Structure Hgb A
    a2 b2
  27. Hgb in adult Structure Hgb F
    A2 y2
  28. Hgb in adult Hgb A2
    a2 d2
  29. Hgb in adult Normal % Hgb A
    96-98
  30. Hgb in adult Normal % Hgb F
    0.5-0.8
  31. Hgb in adult Normal % Hgb A2
    1.5-3.2
  32. List the names of Mendel’s Laws
    The law of segregation & The law of independent assortment
  33. Mendel’s Laws - The law of segregation: Each individual has __?__ factors for each trait. The factors segregate (separate) during the formation of __?__. Each gamete contains only __?__ factor from each pair of factors. Fertilization gives each new individual __?__ factors for each trait.
    Mendel’s Laws - The law of segregation: Each individual has two factors for each trait. The factors segregate (separate) during the formation of gametes. Each gamete contains only one factor from each pair of factors. Fertilization gives each new individual two factors for each trait.
  34. Mendel’s Laws- The law of independent assortment. Each pair of factors __?__of the other pairs. Remember __?__. All possible combinations of factors can occur in the gametes.
    Mendel’s Laws- The law of independent assortment. Each pair of factors segregates independently of the other pairs. Remember MEIOSIS. All possible combinations of factors can occur in the gametes.
  35. A sequence of DNA that encodes for a trait
    a gene
  36. An alternative form of a gene. Thus, if you have a hair color gene, you could have a brown allele & a blonde allele to determine brown vs. blonde hair.
    an allele
  37. How are alleles represented in chromosome pairs? As a pair, so if the hair color genes are located on chromosome 1, each of your chromosome 1’s will have an allele for hair color. So if “B” = brown allele & “b” = blonde allele, your possible combinations are: BB, Bb, bb = these are your __?__ = the genetic make-up for this trait. Thus if you are BB, you only have brown alleles, then your hair color must be BROWN = __?__ = expressed or visible trait linked to your genotype.
    How are alleles represented in chromosome pairs? As a pair, so if the hair color genes are located on chromosome 1, each of your chromosome 1’s will have an allele for hair color. So if “B” = brown allele & “b” = blonde allele, your possible combinations are: BB, Bb, bb = these are your genotypes = the genetic make-up for this trait. Thus if you are BB, you only have brown alleles, then your hair color must be BROWN = phenotype = expressed or visible trait linked to your genotype.
  38. the two alleles in a pair are identical
    Homozygous
  39. the two alleles in a pair are different
    Heterozygous
  40. What would your phenotype be if you were Bb? A Bb person has a heterozygous genotype, but what would his phenotype be?
    Brown
  41. Dominant vs. Recessive: relationship between alleles. If a Bb person has brown hair, then the B allele is dominant to the b allele & the __?__ phenotype will manifest itself in these heterozygous individuals.
    Dominant vs. Recessive: relationship between alleles. If a Bb person has brown hair, then the B allele is dominant to the b allele & the dominant phenotype will manifest itself in these heterozygous individuals.
  42. Homozygous dominant or heterozygous individuals will have the disorder
    Autosomal dominant disorders
  43. Huntington disease: Degenerative __?__disorder = brain cells die prematurely. 1 in 20,000 individuals. Onset = __?__. Death = within __?__ years. Genetic screening is available, but would you want it!
    Huntington disease: Degenerative neurological disorder = brain cells die prematurely. 1 in 20,000 individuals. Onset = middle age. Death = within 10 to 15 years. Genetic screening is available, but would you want it!
  44. Huntington disease is an example of what kind of disorder?
    Autosomal dominant disorder
  45. Homozygous recessive individuals will have the disorder
    Autosomal recessive disorders
  46. Cystic fibrosisis an example of what kind of disorder? 1 in 20 __?__ are carriers.1 in 2500 children born will have the disorder
    Autosomal recessive disorder. 1 in 20 Caucasians are carriers.1 in 2500 children born will have the disorder
  47. When one trait is governed by two or more sets of alleles
    Polygenic Inheritance
  48. Skin color as an example
    Polygenic Inheritance
  49. Skin color as Polygenic Inheritance - The number of pairs of alleles is __?__ but a simple two pair example can give light on how skin color variability can be attained.
    Skin color as Polygenic Inheritance - The number of pairs of alleles is not known but a simple two pair example can give light on how skin color variability can be attained.
  50. Genotype is AABB then Phenotypic skin color is:
    Very Dark
  51. Genotype is AABb or AaBB then Phenotypic skin color is:
    Dark
  52. Genotype is AaBb or AAbb or aaBB then Phenotypic skin color is:
    Medium Brown
  53. Genotype is Aabb or aaBb then Phenotypic skin color is:
    Light
  54. Multiple Alleles & Degrees of dominance - ABO Blood Type. How many different blood types are there (disregard Rh)? __?__.
    Multiple Alleles & Degrees of dominance - ABO Blood Type. How many different blood types are there (disregard Rh)? 4, and they are A, B, AB, & O
  55. Genotype is aabb then Phenotypic skin color is:
    Very Light
  56. How do you type blood? Blood type is determined by the presence or absence of __?__ embedded in your red blood cell’s membrane
    How do you type blood? Blood type is determined by the presence or absence of glycoproteins embedded in your red blood cell’s membrane
  57. Type A blood you have __?__ glycoprotein(s)
    type A
  58. Type B blood you have __?__ glycoprotein(s)
    type B
  59. Type AB blood you have __?__ glycoprotein(s)
    Both
  60. Type O blood you have __?__ glycoprotein(s)
    Neither
  61. What are the alleles that determine blood type & what genotypes give these phenotypes?
    IA, IB, i
  62. If phenotypically you are then genotypically you are: A
    IA IA or IA i (i = no glycoprotein expression)
  63. If phenotypically you are then genotypically you are: B
    IB IB or IB i
  64. If phenotypically you are then genotypically you are: AB
    IA IB
  65. If phenotypically you are then genotypically you are: O
    Ii
  66. What is the relationship between the IA allele and the i allele? What is the relationship between the IB allele and the i allele?
    The one with the glycoprotein is the dominant one
  67. What is the relationship between the IA and IB alleles?
    Co-dominance = both alleles within the allele pair are expressed equally
  68. The heterozygote condition gives an intermediate phenotype
    Incomplete Dominance
  69. Sickle cell anemia is an example of:
    Incomplete Dominance
  70. Sickle cell anemia: A genetic blood disorder characterized by __?__ red blood cells, which result in insufficient delivery of __?__ to the tissues. The cells deform due to a defective __?__ gene.
    Sickle cell anemia: A genetic blood disorder characterized by sickle shaped red blood cells, which result in insufficient delivery of oxygen to the tissues. The cells deform due to a defective hemoglobin gene.
  71. Hgb A =
    normal hemoglobin allele
  72. Hgb S =
    sickle cell hemoglobin allele
  73. If phenotype is normal Hgb then genotype is
    Hgb A Hgb A
  74. If phenotype is Sickle cell trait then genotype is
    Hgb A Hgb S
  75. If phenotype is Sickle cell anemia then genotype is
    Hgb S Hgb S
  76. How does the sickle cell trait fall in between the normal and sickle cell anemia phenotypes? The sickle cell traits red blood cells look __?__, but can sickle if the individuals become very __?__ or suffer moderate __?__ deprivation. The most interesting phenotypic difference is their resistance to __?__. In areas of Africa where malaria is endemic: Sickle cell anemia babies __?__ from sickle cell. Normal individuals risk dying from __?__. Sickle cell trait individuals are immune from contracting the __?__ and won’t __?__ from sickle cell.
    How does the sickle cell trait fall in between the normal and sickle cell anemia phenotypes? The sickle cell traits red blood cells look normal, but can sickle if the individuals become very dehydrated or suffer moderate oxygen deprivation. The most interesting phenotypic difference is their resistance to malaria. In areas of Africa where malaria is endemic: Sickle cell anemia babies die from sickle cell. Normal individuals risk dying from malaria infection. Sickle cell trait individuals are immune from contracting the malaria parasite and won’t die from sickle cell.

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