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drugs and disease > drugs > Flashcards

drugs Flashcards

1
Q

Gout

A

Accumulation of purines

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2
Q

Lesch-Nyhan

A

Accumulation of purines

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3
Q

Dyskeratosis Congenita

A

Telomere deficency syndrome

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4
Q

Xeroderma Pigmentosum

A

Global genome NER mutation. TFIIH txn factor mutation

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5
Q

Cockayne Syndrome

A

Txn-coupled NER mutation. TFIIH txn factor mutation

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6
Q

Trichothiodystrophy

A

Txn deficits lead to developmental deficits. TFIIH txn factor mutation

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7
Q

Heriditary nonpolyposis colorectal cancer (HNPCC)

A

MMR mutations

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8
Q

Hemoglobin Wayne

A

Frameshift mutation. longer C terminal tail

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9
Q

Hemoglobin Constant Spring

A

Sense mutation. longer C terminal tail

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10
Q

beta thalassemia

A

Mutation in beta globulin gene promoter. TATA becomes TATG mutation

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11
Q

different kinds of thalassemia

A

Mutation in locus control region of beta globulin gene clutser, thus all genes in clutser not expressed

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12
Q

Hemophilia B Leyden

A

Mutation in promoter of Factor IX, cannot clot efficiently. Overlapping gene for androgen receptor, so puberty increases txn of gene and condition improves

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13
Q

Fragile X Syndrome

A

CGG repeats in FMR1 gene promoter, lots of methlyation turns off gene, HDAC recruited and histone closes txn site. CGG repeats

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14
Q

Craniosynostosis (Boston Type)

A

Mutation in homeodomain MSX2 causes enhanced binding of protein to promote closure

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15
Q

Androgen Insensitivity Syndrome (AIS)

A

Mutation in DNA binding domain or ligand binding domain of androgen receptor (zinc finger). XY karyotype but no male characteristics

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16
Q

Waardenburg Syndrome (Type II)

A

Mutation in MITF gene, cannot make txn factor for melanocyte induction or hearing cells

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17
Q

Rubinstein-Taybi Syndrome

A

Mutation in one copy of CREB binding protein (CBP) gene. a HAT needed for global txn

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18
Q

Leukemia

A

HAT and HDAC fusions make gene constituitively active or repressed

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19
Q

Colon Cancer

A

Mutation in APC prevents activation of GSK3, beta catenin not posphorylated and degraded, travels to nucleus and induces prolif of colon cells (polyps)

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20
Q

Scurvy

A

Absence of vitamen C. Enzyme needed to add hydroxyl group to proline needs vitamen C

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21
Q

CML

A

Philidelphia chromosome. BCR Abl fusion constiuitivly activates kinase

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22
Q

Sickle Cell Anemia

A

Mutation in Glu to Valine. Leads to Hydrophilic becoming Hydrophobic AA. changes folded structure of RBC

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23
Q

Osetogenesis Imperfecta

A

Mutation in Glycine. bulky AA within triple helix of Type I collagen, disrupts structure so tendons and ligaments cannot form correctly

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24
Q

Cystic Fibrosis

A

Mutation in F508 leading to misfolded transporter

25
Q

Prion Disease

A

Misfolding of prion protein from alpha helicies to beta sheets

26
Q

Alzheimers

A

Beta Amyloid 42 aggregation after cleavage of APP at 2 sites. Misfolded protein

27
Q

Parkinsons

A

Alpha synuclein aggregation

28
Q

Spinomuscular Atropy (SMA)

A

Mutation of SMN1 gene, needed for assembly of U1/U2snRNPs, cannot splice mRNA, spinal motor neurons suffer

29
Q

alpha thalassemia

A

Mutation in polyadenylation signal. AAUAAA becomes AAUAAG

30
Q

Gout

A

Accumulation of purines

31
Q

Lesch-Nyhan

A

Accumulation of purines

32
Q

Dyskeratosis Congenita

A

Telomere deficency syndrome

33
Q

Xeroderma Pigmentosum

A

Global genome NER mutation. TFIIH txn factor mutation

34
Q

Cockayne Syndrome

A

Txn-coupled NER mutation. TFIIH txn factor mutation

35
Q

Trichothiodystrophy

A

Txn deficits lead to developmental deficits. TFIIH txn factor mutation

36
Q

Heriditary nonpolyposis colorectal cancer (HNPCC)

A

MMR mutations

37
Q

Hemoglobin Wayne

A

Frameshift mutation. longer C terminal tail

38
Q

Hemoglobin Constant Spring

A

Sense mutation. longer C terminal tail

39
Q

beta thalassemia

A

Mutation in beta globulin gene promoter. TATA becomes TATG mutation

40
Q

different kinds of thalassemia

A

Mutation in locus control region of beta globulin gene clutser, thus all genes in clutser not expressed

41
Q

Hemophilia B Leyden

A

Mutation in promoter of Factor IX, cannot clot efficiently. Overlapping gene for androgen receptor, so puberty increases txn of gene and condition improves

42
Q

Fragile X Syndrome

A

CGG repeats in FMR1 gene promoter, lots of methlyation turns off gene, HDAC recruited and histone closes txn site. CGG repeats

43
Q

Craniosynostosis (Boston Type)

A

Mutation in homeodomain MSX2 causes enhanced binding of protein to promote closure

44
Q

Androgen Insensitivity Syndrome (AIS)

A

Mutation in DNA binding domain or ligand binding domain of androgen receptor (zinc finger). XY karyotype but no male characteristics

45
Q

Waardenburg Syndrome (Type II)

A

Mutation in MITF gene, cannot make txn factor for melanocyte induction or hearing cells

46
Q

Rubinstein-Taybi Syndrome

A

Mutation in one copy of CREB binding protein (CBP) gene. a HAT needed for global txn

47
Q

Leukemia

A

HAT and HDAC fusions make gene constituitively active or repressed

48
Q

Colon Cancer

A

Mutation in APC prevents activation of GSK3, beta catenin not posphorylated and degraded, travels to nucleus and induces prolif of colon cells (polyps)

49
Q

Scurvy

A

Absence of vitamen C. Enzyme needed to add hydroxyl group to proline needs vitamen C

50
Q

CML

A

Philidelphia chromosome. BCR Abl fusion constiuitivly activates kinase

51
Q

Sickle Cell Anemia

A

Mutation in Glu to Valine. Leads to Hydrophilic becoming Hydrophobic AA. changes folded structure of RBC

52
Q

Osetogenesis Imperfecta

A

Mutation in Glycine. bulky AA within triple helix of Type I collagen, disrupts structure so tendons and ligaments cannot form correctly

53
Q

Cystic Fibrosis

A

Mutation in F508 leading to misfolded transporter

54
Q

Prion Disease

A

Misfolding of prion protein from alpha helicies to beta sheets

55
Q

Alzheimers

A

Beta Amyloid 42 aggregation after cleavage of APP at 2 sites. Misfolded protein

56
Q

Parkinsons

A

Alpha synuclein aggregation

57
Q

Spinomuscular Atropy (SMA)

A

Mutation of SMN1 gene, needed for assembly of U1/U2snRNPs, cannot splice mRNA, spinal motor neurons suffer

58
Q

alpha thalassemia

A

Mutation in polyadenylation signal. AAUAAA becomes AAUAAG

drugs and disease (2 decks)

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