TMC 6

Question 1

for short DNA molecules – melting temp for G:C and A:T

Answer 1

G:C - 4 deg C
A:T - 2 deg C

Question 2

at what temp does all DNA become single stranded

Answer 2

95 deg C

Question 3

where is the cftr gene
what amino acid sequence is deleted

Answer 3

chromosome 7
CTT - phenylalanine

Question 4

what is needed in the PCR reaction

Answer 4

• Target DNA
• Forward and reverse primers
• DNA precursors (dATP, dCTP, dGTP, dTTP)
• A thermostable DNA pol. (TAQ DNA pol.)
• an appropriate buffer with Mg 2+

Question 5

what type of disorder is HH
what happens in it?
what is the gene for HH and why is it important

Answer 5

Hereditary haemochromatosis – autosomal recessive

– excess iron absorbed from the diet - leads to impairment of structure + function of organs

HFE - on chromosome 6
plays a role in regulating hepcidin - small hormone that is important in the down regulation of entry of iron into the blood

Question 6

what protein does HH produce in mutant HFE gene and what is it in the normal HFE gene

Answer 6

normal –> at 845 - G is present – at 282 – TGC -codes for- ACG (cystesine protein)
mutant –> at 845 - A instead of G – at 282 – TAC -codes for- ATG (Tyrosine protein)