genes things

Question 1

Fluorouracil (5-FU)

Answer 1

Topical cyctoxic drug for breast, cervical, stomach and pancreatic cancer treatment.

Question 2

Cytoxic drugs

Answer 2

Treatment for cancer which kill living and non-living cells

Question 3

Mechanism of Fluorouracil (5-FU)

Answer 3

5-FU inhibits the enzyme thymidylate synthase which catalyses thymine synthesis for dUMP -> dTMP (thymine) 5-FU can inhibit RNA processing as it is converted in vivo to FUTP to replace uracil.

Question 4

Methotrexate

Answer 4

Treatment for cancer and autoimmune diseases. It inhibits dihydrofolate reductase for folate synthesis, a necessary component for DNA synthesis. Tetrahydrofolate -> dihydrofolate

Question 5

Vinblastine

Answer 5

Treatment for breast cancer. It causes tubulin to aggregate which prevents spindle thread formation.

Question 6

Paclitaxel

Answer 6

Cancer treatment. Enhances tubulin polymerisation, making it too dynamic which halts mitosis.

Question 7

Cyclophosamide

Answer 7

Treatment for systemic lupus by supressing the immune system. It activates alkylating agents like alkalyl guanine to cause DNA cross linking.

Question 8

Cyclosporin

Answer 8

An immunosuppressant drug which inhibits trans to cis isomerisation. It inhibits calcineurine which activates T cells

Question 9

Tacrolimus

Answer 9

Inhibits calcium binding to the protein complex calcineurine which activates T cells

Question 10

Sacrolimus

Answer 10

Inhibits calcium binding to the protein complex calcineurine which activates T cells

Question 11

Cyctostatic drugs

Answer 11

5-FU, Methotrexate, cyclophosamide, vinblastine and paclitaxel

Question 12

Chromosomal disjunction

Answer 12

Homologous chromosomes are not separated and leads to a zygote at the end of meiosis with 2 chromosomes and a zygote with 0 chromosomes.

Question 13

Cystic fibrosis

Answer 13

Recessive disease that causes build up of mucus in the airways. Mutation of the CF gene disrupts the formation of the CFTR channel protein for CL- transport for mucus production. Inability to exercise, persistent cough and shorter life expectancy are common. 6 classes of cystic fibrosis.

Question 14

Cystic Fibrosis Classes

Answer 14

Class 1: most severe with premature stop codon means no CFTR is produced
Class 2: most common where CFTR is misfolded and in the wrong position
Class 3: asymptomatic where CFTR is in the right position but is not functioning

Question 15

Truncated proteins

Answer 15

Shorter proteins caused by missense substitution

Question 16

Genetic maps

Answer 16

Estimates the probability of recombination in distance by centimorgans. Higher distance= further apart and more likely to cross over. Lower distance=closer and less likely to cross over

Question 17

Short tandem repeats

Answer 17

Most polymorphic, length polymorphism such as dinucleotide repeat

Question 18

Single nucleotide repeat

Answer 18

Single base difference that occurs 1 in 100 nucleotides. THere are 4-5 million in the genome.

Question 19

Restriction fragment length

Answer 19

Cleaves regions and non-cleaved regions of DNA strands indicates mutation