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Board Review > Biochem mutations > Flashcards

Biochem mutations Flashcards

1
Q

MOA of hydroxyurea

A
  • inhibits ribonucleotide reductase
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2
Q

MOA of 6MP

A
  • blocks de novo purine synthesis
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3
Q

MOA of 5-FU

A
  • inhibits thymidylate synthase (decreased dTMP)
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4
Q

MOA of methotrexate

A
  • inhibits dihydrofolate reductase (decreased dTMP)
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5
Q

MOA of trimethoprim

A
  • inhibits bacterial dihydrofolate reductase (decreased dTMP)
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6
Q

enzyme deficient in Lesch-Nyhan syndrome

A
  • HGPRT

- presents with MR, self-mutilation, aggression, hyperuricemia (orange sand crystals), and gout

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7
Q

enzyme deficient in SCID

A
  • adenosine deaminase

- presents with recurrent infections and decreased lymphocyte count

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8
Q

mutation found in xeroderma pigmentosum

A
  • nucleotide excision repair
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9
Q

mutation found in HNPCC

A
  • mismatch repair
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10
Q

mutation found in ataxia telangiectasia

A
  • nonhomologous end joining
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11
Q

enzyme inhibited by Amanita phalloides mushrooms

A
  • RNA polymerase II
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12
Q

cause of I-cell disease

A
  • failure of addition of mannose-6-phosphate to lysosome proteins
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13
Q

mutation found in Chediak-Higashi

A
  • mutation found in the lysosomal trafficking regulator gene (LYST)
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14
Q

mutation found in Kartagener’s

A
  • immotile cilia due to a dynein arm defect
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15
Q

cause of osteogenesis imperfecta

A
  • abnormal type I collagen
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16
Q

cause of Ehlers-Danlos

A
  • defective collagen, most often types I or V
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17
Q

cause of Alport syndrome

A
  • defective type IV collagen
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18
Q

mutation found in Marfan’s

A
  • caused by a defect in fibrillin (fibrillin-1 gene)
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19
Q

blotting procedures

A
  • SNoW DRoP
  • Southern= DNA
  • Northern= RNA
  • Western= Protein
  • Southwestern=DNA-binding proteins
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20
Q

cause and presentation of Prader-Willi syndrome

A
  • paternal allele is not expressed on chromosome 15

- mental retardation, hyperphagia, obesity, hypogonadism, hypotonia

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21
Q

cause and presentation of Angelman’s syndrom

A
  • maternal allele is not expressed on chromosome 15

- MR, seizures, ataxia, inappropriate laughter

22
Q

mutation found in achondroplasia

A
  • fibroblast growth factor receptor 3
23
Q

mutation found in ADPKD

A
  • PDK1 on chromosome 16
24
Q

mutation found in familial adenomatous polyposis

A
  • APC gene on chromosome 5
25
Q

mutation found in familial hypercholesterolemia

A
  • defective or absent LDL receptor
26
Q

mutation found in hereditary spherocytosis

A
  • spectrin or ankryin defect
27
Q

mutation found in NF type 1

A
  • long arm of chromosome 17
28
Q

mutation found in NF type 2

A
  • NF2 gene on chromosome 22
29
Q

mutation found in von-Hippel-Lindau disease

A
  • VHL gene (tumor suppressor) on chromosome 3p
30
Q

mutation found in CF

A
  • CFTR gene on chromosome 7
31
Q

mutation found in Duchenne’s and Becker’s MD

A
  • dystrophin
32
Q

4 diseases associated with trinucleotide repeats

A
  • Fragile X: CGG
  • Friedreich’s ataxia: GAA
  • Huntington’s: CAG
  • Myotonic dystrophy: CTG
33
Q

mutation found in Cri-du-chat syndrome

A
  • microdeletion of short arm of chromosome 5
34
Q

mutation found in William’s syndrome

A
  • microdeletion of long arm of chromosome 7
35
Q

mutation found in DiGeorge’s

A
  • 22q11 deletion
36
Q

enzyme deficient in essential fructosuria

A
  • fructokinase
37
Q

enzyme deficient in fructose intolerance

A
  • aldolase B
38
Q

enzyme deficient in classic galactosemia

A
  • galactose-1-phosphate uridyltransferase
39
Q

enzyme deficient in PKU

A
  • phenylalanine hydroylase
40
Q

enzyme deficient in alkaptonuria

A
  • homogentisic acid oxidase
41
Q

enzyme deficient in cystinuria

A
  • defect of renal tubular amino acid transporter (COLA transporter)
42
Q

cause of maple syrup urine disease

A
  • blocked degradation of BCAA
43
Q

cause of Hartnups

A
  • defective neutral amino acid transporter
44
Q

enzyme deficient in hyperchylomicronemia

A
  • lipoprotein lipase deficiency or altered apo-CII
45
Q

enzyme deficient in familial hypercholesterolemia

A
  • absent or decreased LDL receptors
46
Q

cause of hypertriglyceridemia

A
  • hepatic overproduction of VLDL
47
Q

mutation found in abetalipoproteinemia

A
  • microsomal triglyceride transfer protein (MTP) gene which results in decreased B-48 and B-100
48
Q

mutation associated with DM type I

A

CTLA4

49
Q

mutation associated with DM type II

A

TCF7L2

50
Q

mutation associated with IBD

A

IL-23

51
Q

mutation associated with pituitary adenomas

A

GNAS1

52
Q

mutation associated with autoimmune polyendocrinopathy

A

AIRE

Board Review (49 decks)

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