front 1 Most accessible cells that are capable of proliferation in culture? | back 1 White Blood Cells (T lymphocytes) |
front 2 Short term & long-term cultures are taken from samples of skin biopsy --> | back 2 cultures from cells produce fibroblasts, which can be used for biochemical, molecular studies, chromosome and genome analysis |
front 3 WBCs can also be transformed in culture to form --> | back 3 Lymphoblastoid cell lines (HeLa cell is an immortal cell line. Oldest and most commonly used. Line derived from cervical cancer cells) |
front 4 Fetal cells are derived from | back 4 amniotic fluid |
front 5 Contributions HeLa Cells have made to science include (5): | back 5 1. Polio vaccine 2. Improved cell culture practices 3. Chromosome counting 4. Genome mapping 5. Human Papilloma Virus (HPV) vaccines |
front 6 What does 46, XX, del(5)(q13) mean? | back 6 Female with terminal deletion of one chromosome 5 distal to band 5q13 |
front 7 What does 46, X, r(X) mean? | back 7 Female with ring X chromosome |
front 8 What does 46, XX, t(2;8)(q22;p21) mean? | back 8 Female with balanced translocation between chromosomes 2 and 8, with breaks in bands 2q22 and 8p21 |
front 9 What does 47, XX, +21 mean? | back 9 Female with trisomy 21 |
front 10 What does 45, XY, -22 mean? | back 10 Male with monosomy 22 |
front 11 Dividing cells are arrested in .... by ...... | back 11 Metaphase, destroying spindle fibers and shortening chromosomes |
front 12 Clinical indications for chromosome and genome analysis (6): | back 12
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front 13 Base Substitution | back 13 mutation involving a base changing to a different base |
front 14 Inversion | back 14 a stretch of DNA breaks off and reattaches in the opposite orientation |
front 15 Insertion & Deletion | back 15 One/several bp added & deleted |
front 16 Translocation | back 16 a stretch of DNA breaks off then reattaches somewhere else |
front 17 Mispairing | back 17 A not pairing with T OR G not pairing with C |
front 18 Aneuploidy | back 18 X & Y chromosomes Autosomes |
front 19 Structural abnormalities | back 19 Balanced & Unbalanced |
front 20 Ring Chromosomes occur | back 20 in a mosaic state. 1 in 2500. |
front 21 Molecular disorders: primary disease-causing even is an alternation either inherited or acquired --> | back 21 affecting a gene(s), its structure, and its expression |
front 22 DNA sequencing alternations --> (2) | back 22
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front 23 Mutations involving protein-coding genes --> | back 23 cause disease through one of four different effects on protein function |
front 24 Four different effects are: | back 24
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front 25 Mutations involved in gene regulation are likely located in | back 25 Conserved or functional important |
front 26 Mutations involved in RNA stability are likely located | back 26 at 5' or 3' UTRs |
front 27 Other mutations include: (3) | back 27
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front 28 Four mutations cause loss of function to the protein: (4) | back 28
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front 29 Loss of Function Mutations: Deletion --> | back 29 Reduction in gene dosage |
front 30 Gain of Function Mutations: Increase of one or more of protein functions --> | back 30 Increases gene dosage (gene duplication in amyloid precursor protein gene in AD) |
front 31 Novel Property Mutations: Infrequent, amino acid sequence --> novel property on protein (sickle cell) --> | back 31 no effect on ability of sickle hemoglobin to transport oxygen |
front 32 Mutations associated with Heterochronic or Ectopic Gene Expression: mutations --> inappropriate expression, regulatory regions --> | back 32 cell proliferation (oncogene) ex. cancer is due to abnormal expression |
front 33 Any one of these 8 stages will disrupt normal productions of a protein | back 33
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front 34 Allelic Heterogeneity | back 34 multiple alleles at a single locus, ex CFTR |
front 35 Locus Heterogeneity | back 35 mutations in more than two genes --> special clinical condition like thalassemia from either beta or alpha globin chain |
front 36 Six types of human hemoglobin | back 36
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front 37 LCR | back 37 Locus Control Region |
front 38 Expression of beta globin gene is only partly controlled by | back 38 the promoter and two enhancers |
front 39 20 kb deletion upstream of LCR of beta goblin complex --> | back 39 disease since LCR is required for gene expression |
front 40 Hemoglobin disorders: First Group Structural Variants | back 40 ex. Sickle cells due to mutation --> deoxygenated beta goblin relatively insoluble --> changing shape of red cell |
front 41 Hemoglobin disorders: Second Group Thalassemias | back 41 structural variant --> destabilizes the chain --> decreases production of a globin chain --> decreases abundance of chains --> ratio of alpha to beta chains imbalance due to promoter mutations |
front 42 Hemoglobin disorders: Third Group Hereditary persistence of fetal hemoglobin | back 42 benign conditions. impair perinatal switch from gamma globin to beta globin synthesis. ex, deletion removes both delta and beta globin genes but leads to continued postnatal expression of the gamma globin genes to produce Hb F, an effective oxygen transporter |
front 43 What kind of mutation causes sickle cell? | back 43 Base substitution mutation. GAG to GTG. Glutamate to Valine. Reduced oxygen carrying efficiency |
front 44 Hemoglobin Structural Variants 400 abnormal hemoglobins, 50% are clinically significant. Variants --> hemolytic anemia --> tetramer unstable Variants with altered oxygen transport are due to ...... | back 44 increased or decreased oxygen affinity or to formation of methemoglobin --> form of globin incapable of reversible oxygenation |
front 45 Hb Kempsey
| back 45 1. Beta chain. Asp99Asn 2. Substitution keeps Hb in its high oxygen affinity structure --> less oxygen to tissues --> polycythemia 3. AD |