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103 Cards in this Set

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Which histone protein NOT IN the nucleosome?

H1

DNA - - - - - charge

Phosphate groups

Histone ++++++ charge

Lysine + arginine

LYAR

DNA METHYLATION

HISTONE METHYLATION

HISTONE ACETYLATION

NucleoSide

Ribose + Sugar

NucleoTide

Ribose + sugar + phosphaTe

Purines

Adenine guanine

Pyrimidines

Cytosine - - uracil - - thymine

Guanine - - cytosine

3 H BONDS

Adenine - - thymine

2 H BONDS

2 AT ım var

Methylation of uracil makes thymine

THYmine has a meTHYl

Amino acids necessary for PURINE synthesis

LEFLUNOMIDE

METHOTREXATE

HUMANS

TRIMETHOPRIME - - TMP

BACTERIA

PYRIMETHAMINE

PROTOZOA

5-FU - - - - CAPACITABINE

6-MP---AZATHIOPURINE

MYCOPHENOLATE - - RIBAVIRIN

HYDROXYUREA

.

ADENOSINE DEAMINASE (ADA) DEFICIENCY

Autosomal recessive


Lymphotoxicity


SCID

LESCH-NYAN SYNDROME

HGPRT deficiency


X-linked

LESCH-NYAN SYNDROME SYMPTOMS

LESCH-NYAN SYNDROME TREATMENT

ALLOPURINOL


FEBUXOSTAT (2 ND LINE)

1 amino acid 1 codon

METHIONINE AUG


TRYPTOPHAN UGG

HELICASE deficiency

IRINOTECAN - - TOPOTECAN

inhibits TOPOISOMERASE 1


Eukaryotes

ETOPOSIDE - - TENIPOSIDE

inhibits TOPOISOMERASE 2


Eukaryotes

FLUOROKINOLONES

Inhibits TOPOISOMERASE 2 ( DNA GYRASE) and TOPOISOMERASE 4


Prokaryotes

DNA POLYMERASE III

DNA POLYMERASE I

DNA LIGASE

TELOMERASE

mRNA STOP CODONS

UAA - - - UAG - - - UGA

mRNA START CODON

AUG

RNA PROCESSING

POLYADENYLATION SIGNAL

AAUAAA

RNA POLYMERASE I


Eukaryotes

rRNA present only in NUCLEOLUS

RNA POLYMERASE II


Eukaryotes

mRNA


small nuclear RNA (snRNA)


opens DNA at promoter site

RNA POLYMERASE III


Eukaryotes

5SrRNA


tRNA

Alfa-AMANITIN

inhibits RNA POLYMERASE II

Actinomycin D

inhibits RNA POLYMERASE in both prokaryotes and eukaryotes

Rifampin

inhibits DNA DEPENDENT RNA POLYMERASE in prokaryotes

SHORTEST PHASE of cell cycle ;

M PHASE


Mitosis + cytokinesis

PERMANENT cells

Neurons


Skeletal muscle


Cardiac muscle


Red blood cells

Remain in G0

STABLE (QUIESCENT)

Hepatocytes


Lymphocytes


Proximal convoluted tubule (PCT)


Periosteal cells

Enter G1 from G0 when stimulated

LABILE

Bone marrow


Gut epithelium


Skin


Hair follicles


Germ cells

Never go to G0

.

RICH IN ROUGH ER

Mucus-secreting goblet cells of small intestine


Antibody secreting plasma cells

RICH IN SMOOTH ER

Liver hepatocytes


Steroid hormone producing cells of adrenal cortex


Gonads

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)

ZELLWEGER SYDROME

PEX mutation


Autosomal recessive

Hypotonia


Seizures


Hepatomegaly


Early death

REFSUM DISEASE

Disorder of ALFA OXIDATION


Autosomal recessive

Phytanic acid NOT TO pristanic acid

REFSUM DISEASE

Scaly skin


Ataxia


Cataracts/night blindness


Shortening of 4th toe


Epiphyseal dysplasia

Treatment


Diet


Plasmapheresis

ADRENOLEUKODYSTROPHY

ABCDI gene mutation


X-linked recessive


Disorder of BETA OXIDATION

VLCFA build up in


Adrenal glands


White matter of brain


Testes

I (inclusion) CELL DISEASE


Mucolipidosis Type II

Failure of Golgi to phosphorylate mannose residues on GP

KARTAGENER SENDROM


1 ciliary diskinesia

Dynein arm defect

Autosomal recessive

OUABAIN


Cardiac glycoside

inhibits by binding to potassium site

DIGOKSIN


DIGITOKSIN

Direct inhibition of Na/K ATP ase

.

OSTEOGENESIS IMPERFECTA


COL1A1 and COL1A2 gene defects


Problem forming triple helix


Type 1 collagen


Autosomal dominant

EHLER DANLOS CLASSICAL TYPE

COL5A1 and COL5A2 mutation


Type V Collagen


Can be AD or AR

EHLER DANLOS VASCULAR TYPE

COL3A1 gene mutation


Type III procollagen

MENKES DISEASE

Defective MENKES protein (ATP7A)


impaired copper absorption and transport


Decreased activity of lysyl oxidase


XLR

Brittle kinky hair


Growth retardation


Hypotonia

Alfa-1 antitrypsin

inhibits ELASTASE - break down elastin

.

.

CYSTIC FIBROSIS

CFTR gene mut on chromosome 7


Commonly a deletion of Phe508

CFTR Gene

ATP gated Cl- channel


Secretes Cl- in lungs and GI tract


Reabsorbs Cl-in sweat glands

CYSTIC FIBROSIS DIAGNOSIS

Increased Cl- concentration in pilocarpine induced sweat test

CYSTIC FIBROSIS NEWBORN SCREENING

Increased immunoreactive trypsinogen

TREATMENT IN PHE508 DELETION

X-LINKED RECESSIVE DISORDERS

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

GOWERS SIGN DMD

BECKER MUSCULAR DYSTROPHY

Dystrophin gene mut


Non-frameshift del


Less severe than DMD


Onset in adolescence or early adulthood

TRINUCLEOTIDE REPEAT EXPANSION DISEASES

TRINUCLEOTID REPEAT EXPANSION DISEASES CHART

GENETIC DISORDERS BY CHROMOSOME

.

EDWARDS SYDNROME TRISOMY 18

PATAU SYNDROME TRISOMY 13

.

CRI DU CHAT

WILLIAMS SYNDROME

ROBERTSONIAN TRANSLOCATION

Chromosomal translocation


Commonly involves chromosome pairs 13. 14. 15. 21. 22

FAT SOLUBLE VITAMINS

A. D. E. K.

WATER SOLUBLE VITAMINS

VITAMIN A - RETINOL DEFICIENCY

VITAMIN A - RETINOL EXCESS

RETIN-A

Topically for wrinkles and acne

ISOTRETINOIN

Orally to treat severe cystic acne


Teratogenic

all-TRANS RETINOIC ACID

To treat acute promyelocytic leukemia (APL)

VITAMIN B1 - THIAMINE FUNCTION

VITAMIN B1- THIAMINE DEFICIENCY

GLUT-1

RBC


Brain

GLUT-2

Liver


Kidney


Pancreatic beta cells

GLUT-4

Insulin dependent


Muscle


Adipose tissue