Board Review > Biochem mutations > Flashcards

Biochem mutations Flashcards

(52 cards)

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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

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A
  • maternal allele is not expressed on chromosome 15

- MR, seizures, ataxia, inappropriate laughter

22
Q

mutation found in achondroplasia

Study These Flashcards
A
  • fibroblast growth factor receptor 3
23
Q

mutation found in ADPKD

Study These Flashcards
A
  • PDK1 on chromosome 16
24
Q

mutation found in familial adenomatous polyposis

Study These Flashcards
A
  • APC gene on chromosome 5
25
mutation found in familial hypercholesterolemia
- defective or absent LDL receptor
26
mutation found in hereditary spherocytosis
- spectrin or ankryin defect
27
mutation found in NF type 1
- long arm of chromosome 17
28
mutation found in NF type 2
- NF2 gene on chromosome 22
29
mutation found in von-Hippel-Lindau disease
- VHL gene (tumor suppressor) on chromosome 3p
30
mutation found in CF
- CFTR gene on chromosome 7
31
mutation found in Duchenne's and Becker's MD
- dystrophin
32
4 diseases associated with trinucleotide repeats
- Fragile X: CGG - Friedreich's ataxia: GAA - Huntington's: CAG - Myotonic dystrophy: CTG
33
mutation found in Cri-du-chat syndrome
- microdeletion of short arm of chromosome 5
34
mutation found in William's syndrome
- microdeletion of long arm of chromosome 7
35
mutation found in DiGeorge's
- 22q11 deletion
36
enzyme deficient in essential fructosuria
- fructokinase
37
enzyme deficient in fructose intolerance
- aldolase B
38
enzyme deficient in classic galactosemia
- galactose-1-phosphate uridyltransferase
39
enzyme deficient in PKU
- phenylalanine hydroylase
40
enzyme deficient in alkaptonuria
- homogentisic acid oxidase
41
enzyme deficient in cystinuria
- defect of renal tubular amino acid transporter (COLA transporter)
42
cause of maple syrup urine disease
- blocked degradation of BCAA
43
cause of Hartnups
- defective neutral amino acid transporter
44
enzyme deficient in hyperchylomicronemia
- lipoprotein lipase deficiency or altered apo-CII
45
enzyme deficient in familial hypercholesterolemia
- absent or decreased LDL receptors
46
cause of hypertriglyceridemia
- hepatic overproduction of VLDL
47
mutation found in abetalipoproteinemia
- microsomal triglyceride transfer protein (MTP) gene which results in decreased B-48 and B-100
48
mutation associated with DM type I
CTLA4
49
mutation associated with DM type II
TCF7L2
50
mutation associated with IBD
IL-23
51
mutation associated with pituitary adenomas
GNAS1
52
mutation associated with autoimmune polyendocrinopathy
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