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78 Cards in this Set
- Front
- Back
What is a Chromosome?
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thread of DNA found in the nucleus of the cell
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Number of chromosome a human has?
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46
22 pairs of autosomal 1 pair of sex either XY or XX |
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The human genome is?
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Diploid (two sets of chromosomes) which is about 6 billion bases. That makes about 50,000 to 100,000 genes
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What is a nucleoside?
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bases and sugars
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What is a nucleotide?
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bases, sugars, and the phosphate backbone
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How do we get a protein from DNA?
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DNA--(transcription)--RNA--(translation)--Protein
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What kind of genes encode proteins?
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Stuctural genes (in the human genome they are much larger than necessary to encode their protein products)
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There are three parts to a structural gene. What are they?
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Exon (which is the coding segments), Introns (which is the non-coding segments) and they both are flanked by nontranscribed segments that contribute to gene regulation.
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What is a mis-sense mutation?
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it is a one base change that gives us a new three codon sequence that may give a different protein in the sequence that what was there.
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What is a non-sense mutation?
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the change in base pairs gives us a stop codon or a null gene where it does not belong.
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What is a frame shift?
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It is a shift left or right by the addition of deletion of a base that then changes everything down stream from it.
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What is a locus?
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A position of a chromosome where the genes for a given trait are located.
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What is an alleles?
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Are alternate forms of a gene which occupy a single locus.
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What is Homozygous?
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Is having identical alleles at a given locus on both chromosomes.
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What is Heterozygous?
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Is having non identical alleles at a given locus on both chromosomes
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What is the phenotype?
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That is the traits that are expressed (ABO blood group)
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What is the genotype?
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That is the combination of alleles which produced the trait. (the genes) They can be written is italics, all caps or with * next to it.
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What is a blood group antigen?
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It is a chemical determinant (epitope) on the surface of a red blood cell.
Results from an inherited gene. |
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Gene -> Protein -> ____1____
I --->______2_____ |
1. Antigen themself
2. transferase which is an enzyme that attaches the sugars which are the antigen |
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The blood group system antigens are produced by?
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Alleles at a single locus
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What is a dominant trait?
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It is produced by an allele that exhibits the same effect whether inherited in a single or double dose.
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What is a recessive trait?
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It is produced by an allele that is expressed only when it is inherited in a double dose.
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What is a codominant trait?
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Has equal expression of two different in inherited alleles. This is the blood group.
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What is dosage?
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It is the amount of antigen expressed by red cells homozygous (double dose) at a gene locus vs. those heterozygous (single dose) at the locus.
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What is a silent gene?
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Is a gene that produces no detectable product.
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In family studies autosomal dominant inheritance pattern is?
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1. Trait appears in every generation
2. Trait occurs with equal frequency in males and females. 3. Trait is transmitted by an affected person to half of his or her children. 4. Unaffected family members do not transmit the trait to their children. |
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Autosomal Dominant Inheritance
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See notes
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In family studies autosomal recessive inheritance pattern is?
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1. Trait characteristically appear only in siblings, not in the parents.
2. One fourth of siblings are affected. 3. Parents of the affected child may be consanguineous. 4. Males and females are equally affected. |
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Autosomal recessive inheritance
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see notes
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In family studies X-linked dominant inheritance pattern is?
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1. Affected males transmit the trait to all their daughters and none of their sons.
2. Affected heterozygous females transmit the trait to half of their children of either sex. 3. Affected homozygous females transmit the trait to all their children. |
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X-linked dominant inheritance
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See notes
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What is phenotype frequency?
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It involves testing individuals for all antigens in a system. Should equal 100%
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What is the immune system?
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It is the organ system responsible for protection against infections diseases.
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What is an antigen?
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That part of a foreign substance (pathogen or cell) that is capable of reacting with the products of an adaptive immune response.
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What is an epitope?
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That portion of an antigen that is recognized by the products of the adaptive immune response.
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What are the primary lymphoid organs for lymphocyte maturation?
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Bone Marrow and Thymus
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Which lymphocyte matures in the bone marrow?
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B cells
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Which lyphocyte matures in the thymus?
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T cells
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Which immunoglobulin responds first?
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IgM
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Which immunoglobulin comes after IgM?
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IgG
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In a secondary immunoglobulin response which one respones first?
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IgG with a little IgM
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Which Immunoglobulin is the ABO system?
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IgM
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What are the five immumoglobulins?
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IgG, IgA, IgE, IgD, and IgM
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IgG
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Gamma heavy chain, half life is 21 days and it can activate the complement system
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IgM
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Mu heavy chain, half life is 10 days and it really activates the complement system.
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IgD
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Delta heavy chain half life is 3 days
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IgA
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alpha heavy chain, half life is 6 days
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IgE
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epsilon heavy chain, half life is 2 days
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What is the FAB region?
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The part of the ab that binds the Epitope region
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What is the FC region?
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That is the constant region that does not change.
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If you activate the complement system what does it do?
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You get better destruction of the red blood cells.
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Which Immunoglobulin crosses the placenta?
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IgG
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The antigenic determinants on red blood cells can be?
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amino acid determinants or carbohydrate determinants
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What is the amino acid determinant?
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Are the antigens that are defined by amino acid sequences. EX: Rh, Kidd, Duffy, Lutheran. These are cause hemolytic diseases.
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What is the carbohydrate determinant?
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Complex carbohydrates. EX: ABH, Lewis, P, and I blood group systems. There are from the foods we eat. The intermediate is an enzyme.
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What are the two hemolytic mechanisms?
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extravascular and intravascular hemolysis
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Extravascular hemolysis
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It is destroyed outside the vein by a macrophage in the spleen which has eaten the ag.
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Intravascular hemolysis
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it is destroyed within the vein by IgG binds to it and activation the complement system.
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complement system
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intravascular hemolysis
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What is meant by naturally occuring?
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IgM cause there is no prior exposure or "non-RBC stimulated". Exposed to ag in the environment.
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What is meant by Immune occurring?
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IgG cause you are exposed to foregin RBCs by transfusion or pregnancy.
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What is Alloantibody?
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Antigen negative-produce antibody to this antigen "ab to what we don't have"
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What is Autoantibody?
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antigen positive-produce antibody to self antigen "ab to us"
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What is complement?
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Plasma mediator system
>25 serum proteins activated by at least 3 "pathways" |
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When complement is activated...
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1. cell lysis: intravascular hemolysis
2. cell clearance via RES: extravascular hemolysis. 3. no apparent effect on RBC (but there is evidence of C activation) 4. Generation of inflammatory mediators-systemic events associated with TRx |
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Activation of classical pathway
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IgG and IgM
IgG3>1>2>4 concentration of antigen on RBC surface |
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The classical pathway is activated by?
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-antigen antibody complexes, IgG, IgM
-requires interaction of C1, C4, and C2 |
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The results of the activation of the classical pathway?
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-Results in C3 cleavage, -generation of membrane attack complex
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What happens when complement activation stops at C3b?
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-Clearance by RES, extravascular hemolysis (preferred method)
-Spherocytes appear in circulation on blood smear -RBCs coated with C3d in the circulation appear |
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Why would complement activation stop at C3?
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Cleave C3b thereby preventing formation of a C5 cleaving enzyme.
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What if you see complement on the cells?
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you are dealing with IgM on cells or involved.
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Reagents used in the lab
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Anti-IgG
Anti-C3d or C3b,d |
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The most alloantibodies able to bind complement?
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ABO, Le(a), Jk(a,b), P, Pk, Vel, Ge
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The some alloantiibodies able to bind complement?
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S, Xg(a), LKE, Lan
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The rare alloantibodies able to bind complement?
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S, Fy(a,b)
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What does the complement cascade look like?
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see notes
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The fate of a C2b coated cell?
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see notes
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Complement activation
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see notes
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