Biochem mutations Flashcards Preview

Board Review > Biochem mutations > Flashcards

Flashcards in Biochem mutations Deck (52)
1

MOA of hydroxyurea

- inhibits ribonucleotide reductase

2

MOA of 6MP

- blocks de novo purine synthesis

3

MOA of 5-FU

- inhibits thymidylate synthase (decreased dTMP)

4

MOA of methotrexate

- inhibits dihydrofolate reductase (decreased dTMP)

5

MOA of trimethoprim

- inhibits bacterial dihydrofolate reductase (decreased dTMP)

6

enzyme deficient in Lesch-Nyhan syndrome

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

7

enzyme deficient in SCID

- adenosine deaminase
- presents with recurrent infections and decreased lymphocyte count

8

mutation found in xeroderma pigmentosum

- nucleotide excision repair

9

mutation found in HNPCC

- mismatch repair

10

mutation found in ataxia telangiectasia

- nonhomologous end joining

11

enzyme inhibited by Amanita phalloides mushrooms

- RNA polymerase II

12

cause of I-cell disease

- failure of addition of mannose-6-phosphate to lysosome proteins

13

mutation found in Chediak-Higashi

- mutation found in the lysosomal trafficking regulator gene (LYST)

14

mutation found in Kartagener's

- immotile cilia due to a dynein arm defect

15

cause of osteogenesis imperfecta

- abnormal type I collagen

16

cause of Ehlers-Danlos

- defective collagen, most often types I or V

17

cause of Alport syndrome

- defective type IV collagen

18

mutation found in Marfan's

- caused by a defect in fibrillin (fibrillin-1 gene)

19

blotting procedures

- SNoW DRoP

- Southern= DNA
- Northern= RNA
- Western= Protein

- Southwestern=DNA-binding proteins

20

cause and presentation of Prader-Willi syndrome

- paternal allele is not expressed on chromosome 15
- mental retardation, hyperphagia, obesity, hypogonadism, hypotonia

21

cause and presentation of Angelman's syndrom

- maternal allele is not expressed on chromosome 15
- MR, seizures, ataxia, inappropriate laughter

22

mutation found in achondroplasia

- fibroblast growth factor receptor 3

23

mutation found in ADPKD

- PDK1 on chromosome 16

24

mutation found in familial adenomatous polyposis

- 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

AIRE