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103 Cards in this Set
- Front
- Back
- 3rd side (hint)
Which histone protein NOT IN the nucleosome? |
H1 |
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DNA - - - - - charge |
Phosphate groups |
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Histone ++++++ charge |
Lysine + arginine |
LYAR |
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DNA METHYLATION |
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HISTONE METHYLATION |
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HISTONE ACETYLATION |
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NucleoSide |
Ribose + Sugar |
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NucleoTide |
Ribose + sugar + phosphaTe |
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Purines |
Adenine guanine |
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Pyrimidines |
Cytosine - - uracil - - thymine |
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Guanine - - cytosine |
3 H BONDS |
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Adenine - - thymine |
2 H BONDS |
2 AT ım var |
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Methylation of uracil makes thymine |
THYmine has a meTHYl |
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Amino acids necessary for PURINE synthesis |
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LEFLUNOMIDE |
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METHOTREXATE |
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HUMANS |
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TRIMETHOPRIME - - TMP |
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BACTERIA |
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PYRIMETHAMINE |
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PROTOZOA |
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5-FU - - - - CAPACITABINE |
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6-MP---AZATHIOPURINE |
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MYCOPHENOLATE - - RIBAVIRIN |
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HYDROXYUREA |
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. |
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ADENOSINE DEAMINASE (ADA) DEFICIENCY |
Autosomal recessive Lymphotoxicity SCID |
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LESCH-NYAN SYNDROME |
HGPRT deficiency X-linked |
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LESCH-NYAN SYNDROME SYMPTOMS |
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LESCH-NYAN SYNDROME TREATMENT |
ALLOPURINOL FEBUXOSTAT (2 ND LINE) |
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1 amino acid 1 codon |
METHIONINE AUG TRYPTOPHAN UGG |
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HELICASE deficiency |
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IRINOTECAN - - TOPOTECAN |
inhibits TOPOISOMERASE 1 Eukaryotes |
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ETOPOSIDE - - TENIPOSIDE |
inhibits TOPOISOMERASE 2 Eukaryotes |
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FLUOROKINOLONES |
Inhibits TOPOISOMERASE 2 ( DNA GYRASE) and TOPOISOMERASE 4 Prokaryotes |
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DNA POLYMERASE III |
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DNA POLYMERASE I |
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DNA LIGASE |
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TELOMERASE |
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mRNA STOP CODONS |
UAA - - - UAG - - - UGA |
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mRNA START CODON |
AUG |
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RNA PROCESSING |
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POLYADENYLATION SIGNAL |
AAUAAA |
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RNA POLYMERASE I Eukaryotes |
rRNA present only in NUCLEOLUS |
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RNA POLYMERASE II Eukaryotes |
mRNA small nuclear RNA (snRNA) opens DNA at promoter site |
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RNA POLYMERASE III Eukaryotes |
5SrRNA tRNA |
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Alfa-AMANITIN |
inhibits RNA POLYMERASE II |
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Actinomycin D |
inhibits RNA POLYMERASE in both prokaryotes and eukaryotes |
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Rifampin |
inhibits DNA DEPENDENT RNA POLYMERASE in prokaryotes |
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SHORTEST PHASE of cell cycle ; |
M PHASE Mitosis + cytokinesis |
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PERMANENT cells |
Neurons Skeletal muscle Cardiac muscle Red blood cells |
Remain in G0 |
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STABLE (QUIESCENT) |
Hepatocytes Lymphocytes Proximal convoluted tubule (PCT) Periosteal cells |
Enter G1 from G0 when stimulated |
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LABILE |
Bone marrow Gut epithelium Skin Hair follicles Germ cells |
Never go to G0 |
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. |
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RICH IN ROUGH ER |
Mucus-secreting goblet cells of small intestine Antibody secreting plasma cells |
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RICH IN SMOOTH ER |
Liver hepatocytes Steroid hormone producing cells of adrenal cortex Gonads |
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PEROXISOME |
Membrane-enclosed organelle involved in: - β-oxidation of very-long-chain fatty acids (VLCFA) - α-oxidation (strictly peroxisomal process) - Catabolism of branched-chain fatty acids, amino acids, and ethanol - Synthesis of cholesterol, bile acids, and plasmalogens (important membrane phospholipid, especially in white matter of brain) |
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ZELLWEGER SYDROME |
PEX mutation Autosomal recessive |
Hypotonia Seizures Hepatomegaly Early death |
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REFSUM DISEASE |
Disorder of ALFA OXIDATION Autosomal recessive |
Phytanic acid NOT TO pristanic acid |
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REFSUM DISEASE |
Scaly skin Ataxia Cataracts/night blindness Shortening of 4th toe Epiphyseal dysplasia |
Treatment Diet Plasmapheresis |
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ADRENOLEUKODYSTROPHY |
ABCDI gene mutation X-linked recessive Disorder of BETA OXIDATION |
VLCFA build up in Adrenal glands White matter of brain Testes |
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I (inclusion) CELL DISEASE Mucolipidosis Type II |
Failure of Golgi to phosphorylate mannose residues on GP |
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KARTAGENER SENDROM 1 ciliary diskinesia |
Dynein arm defect |
Autosomal recessive |
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OUABAIN Cardiac glycoside |
inhibits by binding to potassium site |
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DIGOKSIN DIGITOKSIN |
Direct inhibition of Na/K ATP ase |
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. |
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OSTEOGENESIS IMPERFECTA |
COL1A1 and COL1A2 gene defects Problem forming triple helix Type 1 collagen Autosomal dominant |
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EHLER DANLOS CLASSICAL TYPE |
COL5A1 and COL5A2 mutation Type V Collagen Can be AD or AR |
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EHLER DANLOS VASCULAR TYPE |
COL3A1 gene mutation Type III procollagen |
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MENKES DISEASE |
Defective MENKES protein (ATP7A) impaired copper absorption and transport Decreased activity of lysyl oxidase XLR |
Brittle kinky hair Growth retardation Hypotonia |
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Alfa-1 antitrypsin |
inhibits ELASTASE - break down elastin |
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CYSTIC FIBROSIS |
CFTR gene mut on chromosome 7 Commonly a deletion of Phe508 |
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CFTR Gene |
ATP gated Cl- channel Secretes Cl- in lungs and GI tract Reabsorbs Cl-in sweat glands |
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CYSTIC FIBROSIS DIAGNOSIS |
Increased Cl- concentration in pilocarpine induced sweat test |
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CYSTIC FIBROSIS NEWBORN SCREENING |
Increased immunoreactive trypsinogen |
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TREATMENT IN PHE508 DELETION |
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X-LINKED RECESSIVE DISORDERS |
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DUCHENNE MUSCULAR DYSTROPHY |
Dystrophin prt mutation Frameshift del or nonsense mut Loss of dystrophin myonecrosis Increased CK and aldolase GSGNTST Onset before 5 years of age Dilated CMP common cause death |
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GOWERS SIGN DMD |
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BECKER MUSCULAR DYSTROPHY |
Dystrophin gene mut Non-frameshift del Less severe than DMD Onset in adolescence or early adulthood |
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TRINUCLEOTIDE REPEAT EXPANSION DISEASES |
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TRINUCLEOTID REPEAT EXPANSION DISEASES CHART |
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GENETIC DISORDERS BY CHROMOSOME |
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. |
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EDWARDS SYDNROME TRISOMY 18 |
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PATAU SYNDROME TRISOMY 13 |
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CRI DU CHAT |
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WILLIAMS SYNDROME |
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ROBERTSONIAN TRANSLOCATION |
Chromosomal translocation Commonly involves chromosome pairs 13. 14. 15. 21. 22 |
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FAT SOLUBLE VITAMINS |
A. D. E. K. |
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WATER SOLUBLE VITAMINS |
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VITAMIN A - RETINOL DEFICIENCY |
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VITAMIN A - RETINOL EXCESS |
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RETIN-A |
Topically for wrinkles and acne |
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ISOTRETINOIN |
Orally to treat severe cystic acne Teratogenic |
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all-TRANS RETINOIC ACID |
To treat acute promyelocytic leukemia (APL) |
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VITAMIN B1 - THIAMINE FUNCTION |
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VITAMIN B1- THIAMINE DEFICIENCY |
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GLUT-1 |
RBC Brain |
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GLUT-2 |
Liver Kidney Pancreatic beta cells |
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GLUT-4 |
Insulin dependent Muscle Adipose tissue |
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