Mutations

Question 1

mutation - what is it?

Answer 1

random, rare change in genetic material as DNA changes

Question 2

consequences of mutation

Answer 2

no change or different protein

Question 3

mutation induced by:

Answer 3

ionising radiation, chemical mutagens, UV, point mutation

Question 4

point mutation

Answer 4

one base changes, so error in overall base sequence

Question 5

deletion

Answer 5

one base gone

Question 6

substitution

Answer 6

one base added

Question 7

how many alleles in a haploid?

Answer 7

21k

Question 8

genotype

Answer 8

pair of alleles representing specific characteristic

Question 9

phenotype

Answer 9

representation of genotype

Question 10

heterozygous

Answer 10

alleles of genotype are different

Question 11

homozygous

Answer 11

alleles of genotype are the same

Question 12

cystic fibrosis

Answer 12

mucus is thick + sticky, issues with digestion, pressure on heart, recessive

Question 13

polydactyl

Answer 13

dominant, genetic disorder of 7th chromosome , extra toes/ fingers

Question 14

amnioscentesis

Answer 14

15 weeks, fluid around developing foetus taken for embryo screening

Question 15

chorismic villus sampling

Answer 15

12 weeks, small sample of developing placenta tissue

Question 16

alternative screening

Answer 16

IVF, couples with inherited disorders test embryos prior to implantation