genetics part 2

Question 1

T1DM

Answer 1

high glucose level
exhausted
polydipsia
polyurea

Question 2

hepatocyte nuclear factor

Answer 2

transcription factors
importantb in development and function of B cell in pancreas
control expression of B cell genes

Question 3

mutation in HNF-1alpha

Answer 3

abnormal insulin secretion
increased insulin sensitivity and marked sensitivity to hypoglycaemic affects of sulphonylureas
low renal threshold for glucose
microvascular disease

Question 4

pros of FWAS

Answer 4

pave way for genomic medicine - genetically reprogram those with a disease to health
non-candidate driven approach - pick up wider selection of loci associated with disease

Question 5

contrast to non-candidate driven approach

Answer 5

gene -specific candidate driven studies

rely on previous knowledge in choosing a particlaur gene to study

Question 6

cons of GWAS

Answer 6

expensive to sequence wole genome - so focus on SNPs - may be missing key areas of genome
disease risk not solely related to genetic susceptibility
-ve effects on healyth insurance or jobs
therapeutic benefit currently is unclear - cant yet reprogram cells
how significant are findings really

Question 7

common disease-common variant hypothesis

Answer 7

all common diseases must have common genetic basis
this is basis of GWAS
predict risk of certain diseases in sub-populations - target groups with preventative measures or increased screening