Biochem

Question 1

Vimentin stain

Answer 1

Sarcoma
Endometrial cancer
RCC
Meningiomas

Question 2

Desmin stain

Answer 2

Rhabdomyosarcoma

Question 3

Cytokeratin stain

Answer 3

Epithelial tumours

Question 4

GFAP

Answer 4

Astrocytoma

Question 5

Neurofilaments stain

Answer 5

Neuroblastoma

Question 6

Drugs that act on micro tubules

Answer 6

Mebendazole
Griseofulvin 
Colchicine 
Vincristine/ Vinblastine
Paclitaxel

Question 7

Type 1 collagen

Answer 7

Bone skin tendon dentin fascia cornea late would repair

Osteogenesis imperfecta

Question 8

Type 2 collagen

Answer 8

Cartilage hyaline vitreous body nucleus pulposus

Question 9

Type 3 collagen

Answer 9

Reticulin
Skin BV uterus fetal tissue granulation tissue

Deficient in vascular type of Ehlers Danlos

Question 10

Type 4 collagen

Answer 10

Basement membrane basal laminate lens

Defective in Alports
Targeted by autoantibodies in Goodpastures

Question 11

Collagen synthesis 6 steps

Answer 11

Synthesis 
Hydroxylation
Glycosylation
Exocytosis
Proteolytic processing
Cross-linking

Question 12

Menkes disease
Protein?

Leads to?

Sx?

Answer 12

ATP7A

Decreased activity of lysyl oxidase

Kinky hair growth retardation hypotonia

Question 13

Blotting procedures

Answer 13

SNoW DRoP

Southern DNA
Northern RNA
Western Protein
Southwestern DNA binding protein

Question 14

Chromosome 3

Answer 14

VHL

RCC

Question 15

Chromosome 4

Answer 15

ADPKD PKD2

Achondroplasia

Huntington

Question 16

Chromosome 5

Answer 16

Cri du chat

FAP

Question 17

Chromosome 6

Answer 17

Haemochromatosis HFE

Question 18

Chromosome 7

Answer 18

Williams syndrome

CF

Question 19

Chromosome 9

Answer 19

Friedrich ataxia

Question 20

Chromosome 11

Answer 20

Wilms tumour

B globin gene defects
Sickle cell
B thalassemia

Question 21

Chromosome 13

Answer 21

Patau syndrome

Wilson

Retinoblastoma RB1

BRCA2

Question 22

Chromosome 15

Answer 22

Prader-Willi

Angelman

Marfan

Question 23

Chromosome 16

Answer 23

ADPKD PKD1

A-globulin gene defects a thalassemia

Question 24

Chromosome 17

Answer 24

NF1

BRCA1

Question 25

Chromosome 18

Answer 25

Edwards

Question 26

Chromosome 22

Answer 26

NF2 DiGeorge syndrome 22q11

Question 27

Chromosome X

Answer 27

Fragile X X linked agammaglobulinemia Klinefelter XXY

Question 28

X linked recessive disorders

Answer 28

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