Biochem Flashcards

1
Q

Vimentin stain

A

Sarcoma
Endometrial cancer
RCC
Meningiomas

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2
Q

Desmin stain

A

Rhabdomyosarcoma

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3
Q

Cytokeratin stain

A

Epithelial tumours

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4
Q

GFAP

A

Astrocytoma

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5
Q

Neurofilaments stain

A

Neuroblastoma

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6
Q

Drugs that act on micro tubules

A
Mebendazole
Griseofulvin 
Colchicine 
Vincristine/ Vinblastine
Paclitaxel
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7
Q

Type 1 collagen

A

Bone skin tendon dentin fascia cornea late would repair

Osteogenesis imperfecta

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8
Q

Type 2 collagen

A

Cartilage hyaline vitreous body nucleus pulposus

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9
Q

Type 3 collagen

A

Reticulin
Skin BV uterus fetal tissue granulation tissue

Deficient in vascular type of Ehlers Danlos

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10
Q

Type 4 collagen

A

Basement membrane basal laminate lens

Defective in Alports
Targeted by autoantibodies in Goodpastures

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11
Q

Collagen synthesis 6 steps

A
Synthesis 
Hydroxylation
Glycosylation
Exocytosis
Proteolytic processing
Cross-linking
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12
Q

Menkes disease
Protein?

Leads to?

Sx?

A

ATP7A

Decreased activity of lysyl oxidase

Kinky hair growth retardation hypotonia

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13
Q

Blotting procedures

A

SNoW DRoP

Southern DNA
Northern RNA
Western Protein
Southwestern DNA binding protein

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14
Q

Chromosome 3

A

VHL

RCC

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15
Q

Chromosome 4

A

ADPKD PKD2

Achondroplasia

Huntington

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16
Q

Chromosome 5

A

Cri du chat

FAP

17
Q

Chromosome 6

A

Haemochromatosis HFE

18
Q

Chromosome 7

A

Williams syndrome

CF

19
Q

Chromosome 9

A

Friedrich ataxia

20
Q

Chromosome 11

A

Wilms tumour

B globin gene defects
Sickle cell
B thalassemia

21
Q

Chromosome 13

A

Patau syndrome

Wilson

Retinoblastoma RB1

BRCA2

22
Q

Chromosome 15

A

Prader-Willi

Angelman

Marfan

23
Q

Chromosome 16

A

ADPKD PKD1

A-globulin gene defects a thalassemia

24
Q

Chromosome 17

A

NF1

BRCA1

25
Q

Chromosome 18

A

Edwards

26
Q

Chromosome 22

A

NF2

DiGeorge syndrome 22q11

27
Q

Chromosome X

A

Fragile X

X linked agammaglobulinemia

Klinefelter XXY

28
Q

X linked recessive disorders

A
Ornithine transcarbamylase deficiency
Fabry disease
Wiskott-Aldrich syndrome
Ocular albinism
G6PD def
Hunter syndrome
Bruton agammaglobulinemia
Haemophilia A&B
Lesch-Nyhan
Duchenne/ Becker