Gene polymorphisms and Pharmacogenomics

Question 1

What does Pharmacogenomics mean?

Answer 1

Influence of genetic variatioon on drug response correlating gene expression or SNP with drug toxicity

Question 2

What does Microarray indentify polymorphisms in?

Answer 2

CYP450 genes

Question 3

What are regions of chromosome in between genes termed?

Answer 3

Non-coding regions

Question 4

What is transcription?

Answer 4

Generation fo RNA from a DNA template

Question 5

What is an Exon?

Answer 5

Blocks of a gene whose DNA sequence will determine AA sequence

Question 6

What is an Intron?

Answer 6

Blocks of a gene which dont code for protein and removed during transcript to generate mRNA

Question 7

What is Translation?

Answer 7

Protein is made using mRNA as sequence

Question 8

What is a Mutation?

Answer 8

Change in DNA sequence

Question 9

What is a Nonsynonymous mutation?

Answer 9

Mutation that results in change of protein sequence

Question 10

What is a Genotype?

Answer 10

Combo of allels for a given gene within indiv

Question 11

What is a Haplotype?

Answer 11

Combo of SNP present at different genetic locations that are transmitted on same chromatid

Question 12

How many mutations does your genome contain?

Answer 12

100 new

Question 13

What are silent variations?

Answer 13

Some changes that occur in coding which no known effect

Question 14

What is Haemophilia?

Answer 14

Simple disease in which variation in one gene causes disease

Question 15

What are complex diseases?

Answer 15

Symptons seen only after many variations have occured in diff genes in same cell

Question 16

What do SNPs act as?

Answer 16

Biological markers - help identify genes with disease

Question 17

What is the Apoplipoprotein ApoE?

Answer 17

Associated with Alzheimers - has 2 SNPS

Question 18

What are 3 Possible Alleles termed?

Answer 18

E2,3,4 different by 1 base in coding region

Question 19

How to treat Breast cancer?

Answer 19

Trastuzumab

Question 20

How to treat V600 B-Raf melanoma?

Answer 20

Vemurafenib

Question 21

How do treat Chronic myelogenous leukaemia?

Answer 21

Imatinib

Question 22

How do coagulation function?

Answer 22

Catalyses conversion of fluid blood to solid fibrin clot

Question 23

What is Coagulation responsible for?

Answer 23

Making fibrous network wall at site of lesion

Question 24

How does Coagulation work?

Answer 24

Trap exudate and foreing bodies, Stop bleeing by platelet plug, Provide framework for repair

Question 25

What are coagulation factors?

Answer 25

Plasma proteins made in inactive form in liver activated at sites of vessel injury to active proteas

Question 26

What are phospholipid factors?

Answer 26

On surface of activate platelets

Question 27

What are Calcium ion factors?

Answer 27

Required for several coagu factors to be active

Question 28

What does Fibrin do?

Answer 28

Give blood clot mechanical strength

Question 29

What are 3 arms for coagulation factors?

Answer 29

Intrinsic, Extrinsic, Common

Question 30

What are e.g of enhanced coagulaion in disease?

Answer 30

DVT, PE, MI,

Question 31

Why is warfarin administered?

Answer 31

Patients with increased thrombotic tendency ; PE, DVT, AFib, Heart valve

Question 32

What is the Warfarin mechanism?

Answer 32

VitK- co factor for GGCX in live required for calcium binding - vitamin k reductase antagonist

Question 33

What are the Variable pharmacokinetics of warfarin?

Answer 33

Liver enzyme responsible for inactivation CYP2C9

VitK reductase VKORC1

Question 34

How is Warfarin metabolised?

Answer 34

S isomer has more than 5 Fold , more potent, CYP450/2C9

Question 35

What alleles impaired warfarin metabolism?

Answer 35

CYP2C9 2 +3 alleles on nonsynonymous variation

Question 36

What is the Frequency of Warfarin on ethnic variation?

Answer 36

Caucasions - CYP2C9 2+3

Asians - Non-coding 1173C