Flashcard Set Preview
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| 1 |
hydroxyurea
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antineoplastic and antibiotic inhibits ribonucleotide reductase cant transform UDP --> dUDP...
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6-mercaptopurine6-MP
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antineoplastic and antibiotic blocks purine synthesis IMP pathway A G
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5-flurouracil 5-FU
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antineoplastic and antibiotic inhibits thymidylate synthesis (pyrimidine)dUMP --> dTMP
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methotrextate (MTX)
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antineoplastic and antibiotic inhibits dihydrofolate reductase dUMP --> dTMP less dTMP
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Trimethoprim
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inhibits bacterial dihydrofolate reductase dUMP --> dTMP less dTMP
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| 6 |
orotic aciduria treatment?
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orotic acid -->UMPorotic acid phosphoribosyltransferase orotidine 5'phosphate decarbocylase...
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cause of SCID
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"aden is scidish"adenosine deaninase deficiency (ADA)cannot turn adenosine into inosine excess...
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| 8 |
cause of lesch nyhan syndrome inheritance?
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defective purine salvage no HGPRT "he's got purine recovery trouble" guanine --> GMPhypoxanthine...
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| 9 |
start codon (in replica and in transcription?)
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replicationmethionine AUG
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| 10 |
stop codonswhat is it called if a mutation results in a stop codon
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replicationUAG, UGA, UAAnonsense "stop the nonsense"
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| 11 |
which direction does replication takes place?what do fluroqiunolones affect
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5' --> 3'DNA gyrase of replication
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| 12 |
which polymerase initiates replication in proks?
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polymerase III
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| 13 |
what proofreads DNA in proks and in what direction?
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polymerase III (also replicates) 3' --> 5'
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| 14 |
what is the job of polymerase I?
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proks onlydegrades RNA promer in replication and fills gap with DNA exonuclease 5' -> 3'
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| 15 |
xeroderma pigmentosa - what is the mechanism that is defective?
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nucleotide excision repair thymidine dimers need to be rapaiedpredisposed to melanoma
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| 16 |
base excision repair
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remove bases that are wrong
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| 17 |
what mechanism is defective in HNPCC - hereditary nonpolyp colorectal cancer
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mismatch repair unmethylatedstring is recognized, mismatched nucleotides are recognized, removed...
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| 18 |
how is RNA polymerase I different from DNA polymerase I?RNA polymerase II and III
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prok DNA polymerase I removes the primerprok RNA polumerase I makes all 3 kinds of RNA RNA...
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| 19 |
a-amanitin
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death cap mushrooms liver failure inhibits RNA polymerase II - mRNA
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| 20 |
unspliced RNA proteins that splice
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hnRNA snRNPs
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| 21 |
patients with lupus make antibodies to
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splicesomal snRNPs
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| 22 |
tumor suppressor genes
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Rb and p53 normally inhibit G1 to S phase in the cell cycle
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| 23 |
I - Cell disease symptoms
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failure of addition of mannose-6-phosphate to lysosomal proteins -golgi, ER- enzymes are secreted...
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| 24 |
chedik-higashi
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microtubule defect affects macrophages recurrent pyrogenic infections, partial albanism, periferal...
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| 25 |
drugs that affect microtubules
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1) mebendazole/thibendazole (antihelmenthic) 2) griseofluvin (antifungal) 3) vinvcritine/vinblastine...
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| 26 |
immobile cilia due to dynein arm defectmale and female fertility bronchiectasissinus inversus ...
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Kartagener's syndrome
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| 27 |
vimentindesmincytokeratinGFAPneurofilaments
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connective tissue muscleepithelial cellsneuroglianeurons
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| 28 |
quabain
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sounds like k inhibits na/k by binding k site
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| 29 |
digoxin
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inhibits na/k atpase and leads to inhibition of na/ca contractility
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| 30 |
type I collagenwhat condition?
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bone, skin, tendon, dentin, fascia, cornea, late wound repair type I - bONEosteogenisis imperfecta...
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| 31 |
type ii collagen
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cartlage carTWOlage, vitreous body, nucleus pulposus
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type iii collegenwhat condition?
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reticulin, blood vessels, uterus, fetal tissue, granulation tissueEler danlos - also defective...
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| 33 |
type iv collagen what condition?
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basement membrane under the floor alport syndrom - kidney, eyes, ears
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| 34 |
which aa are a chains of collagen made of?
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gly - pro - lys
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| 35 |
vitamin c - which process does it aid in?what condition?
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hydroxylation of proline and lysine scurvy
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| 36 |
symptoms of Ehlers - Danlos
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- hyperextensible skin- tendency to bleed - hypermobile joints - joint dislocation- berry aneurism-...
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| 37 |
osteogenesis imperfecta symptoms
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brittle bones - multiple fractures with min trauma - Blue sclerae - transluceny of chroid over...
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| 38 |
Alport syndrome symptoms
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- type 4 collegen - x-linked recessice - hereditary nephritis (kidney and the BM)- deafness-...
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| 39 |
Marfan's syndrome affects what connective tissue type and what gene?
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elastin connective tissue defect in fibirllin long fingers, risk of aneurism, but not because...
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emphysema affects what connective tissue and what is the deficiency?
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emphysema is caused by a1-antitrypsin deficiency - resulting in too much elastase enzyme activity...
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| 41 |
locus heterogeneity for the marfanoid habitus
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marfan's. MEN 2B, homocystinuria
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| 42 |
deletion of the normally active Paternal allel - imprinting
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Prader willi syndrome - mental retardation, hyperphagia, obedity, hypOgonadism, hypotonia P...
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detetion of the normally active maternal allel - imprinting
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AngelMan's syndrome - mental retardation seizures, ataxia, inappropriate laughter, "happy puppet"...
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| 44 |
what is an example of an x-linked dominent disease?
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Hypophosphatemic rickets - "vitamin D resistant rickets. phosphate isnt aborbed in the kidney ...
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| 45 |
what is an example of a mitochondrialy inherited disease?
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leber's hereditary optic neuropathy - degeneration of the retinal ganglion cells and axons...
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| 46 |
achondroplasia inheritance?
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dwarfism, autosomal dominent fibroblast growth factor (FGF) cartilage ossification is defective...
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| 47 |
ADPKD inheritance?what chromosom?
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autosomal- dominant polycystic kidney disease chromosome 16 - APKD1 gene mutation bilateral...
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| 48 |
familial adenomatous polyposis which chromosome?inheritance?
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colon gets many polyps after puberty, progresses to colon cancer; deletion of chromosome 5...
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| 49 |
familial hypercholesterolemia ( hyperlipidemia type IIA) inheritance?
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autosomal dominent elevated LDL due to defective or absent LDL receptor, atherosclerosis early...
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| 50 |
Osler - Weber - RENDU ( HEREDITARY HEMORRHAGIC TELANGIECTASIA) inheritance
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autosomal dominent inherited disorder of the blood vessels telaniectasia, recurrent epistaxis...
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| 51 |
hereditary spherocytosis inheritance?treatment?
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autosomal dominent sphere RBC due to spectrin and ankrin defect - cytoskeleton ,hemolytic anemia,...
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| 52 |
huntington's disease inheritance? what is atrophied and what Neurotransmitters are missing?what...
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autosomal dominent caudate atrophy, low GABA (inhib) and Ach chrome 4 "hunting 4 food"trinucleotide...
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| 53 |
marfan's syndrome inheritance symptoms
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autosomal dominent - fibrillin gene subluxation of lenses, sissecting aortic aneurism (lightneingbolt...
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| 54 |
what gene are MEN 2a and 2B associated with?inheritance?what organs are affected
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ret geneautosomal dominent hormone producing organs - pituitary, adrenal medulla, parathyroid,...
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| 55 |
what chromosome is NF1 associated with?inheritance?
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17 autosomal domlinch nodules in eyes
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| 56 |
what chromosome is NF 2 associated with?inheritance
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chrom 22aucoustic shwanomas NF 2 gene autosomal dominent
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| 57 |
tuberous slerosis von hipple lidau
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ash leaf spots - rhabdomyovon hipple VHL gene (tumor supressor ) chromosome 3 both are autosomal...
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| 58 |
cystic fibrosisinheritance?gene?test?treatment
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autosomal recessive CFTR gene - chromosome 7abnormal Cl- channel formation - never reaches...
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| 59 |
X-linked disorders - BOYS affected most
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Be Wise, Fool's GOLD Heeds Silly HopeBrutons' agammaglobinemia wiskott-aldrich Fabry's diseaseG6PD...
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| 60 |
bruton's agammaglobinemia inheritance
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x-linked recessive - boys low immunoglobulins Hemophilus influenzae, pneumococci (Streptococcus...
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| 61 |
wiskott aldrich inheritance
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x-linked recessive - boys eczema, thrombocytopenia (low platelet count), immune deficiency,...
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| 62 |
what gene does duchenne's muscular dystrophy affect?inheretance?
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dystrophin (DMD gene) - skeletal and cardiac muscle x-linked recessive - boys incr. CPK...
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| 63 |
what is fragile X syndrome similar to?
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X-linked recessive - Boyslike Huntingtons bc it's tripple repear - CGG" eggs" testes...
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| 64 |
friedreich ataxia is what genetic disorder?
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trinucleotide repeat - GAA
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| 65 |
what GI condition is down's associated with?
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duodenal atresia
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| 66 |
what brain disorder is down's associated with?
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amaloidosis (ALL) - alzheimer's disease
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| 67 |
what are the amnionic fluid and neonatal findings of down's
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low A-fetoproteinhigh B-hCGincreased nuchal translucency low estriolhigh inhinin A
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| 68 |
Edward's is trisomy ___Patau?
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Edwards and Eighteen puberty 13 puberty, cleft palate, Polydactyly
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| 69 |
Chromosome 5 microcephaly, retardation, cardiac abnormalities
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cat like crycri-du-chat
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| 70 |
chromosome 7deleted elastin geneelfin facies, mental retardation, hyperca, good verbal, extreme...
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williams syndrome
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| 71 |
facial deformity, thymic deficiency - low T cells and more infections, cardiac defects, ...
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CATCH-22 22q11 deletion 3rd and 4th brachial pouches
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| 72 |
DiGeorge syndrome genetics
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thymic problem (low T cell, no thymic shadow)cardiac problem (tetrology of fallot) parathyroid...
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| 73 |
velocardiofacial syndrome genetics
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palate, facial, cardiac defects 22q11 3rd and 4rth brachial pouches
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| 74 |
B1B2B3 B5B6B7
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thiamine B1 riboflavin - B2niacin - B3pentothenic acid - B5pyroxidine - B6biotin - B7...
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fat soluble vitamins
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ADEKA- visionD- bones E - antioxidentK - clotting
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water soluble vitamins
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all the B vitamins, vitamin C, folate, cobalamin (B12) - blood and cns - neural problems and...
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