Genetics

Question 1

what is a genotype?

Answer 1

a persons genes

Question 2

what is a phenotype?

Answer 2

a persons physical appearance

Question 3

when does DNA replication occur?

Answer 3

during the S phase

Question 4

what is mitosis?

Answer 4

when one diploid parent cell divides into two identical diploid daughter cells

Question 5

what is meiosis?

Answer 5

when one diploid parent cell becomes four haploid daughter cells

Question 6

what is a polymorphism?

Answer 6

a variation in the genome that doesnt cause disease but predisposes to a certain disease

Question 7

name two types of sequence variations within a gene

Answer 7

changes in promotor sequence

changes in exon sequence

Question 8

name two sequence changes that can occur in DNA between genes

Answer 8

single nucleotide polymorphisms

deletions/duplications

Question 9

what is a mutation?

Answer 9

a change in a gene that causes a disease or disorder, can be inherited

Question 10

what does aCGH stand for?

Answer 10

array hybridisation

Question 11

what can aCGH be used for?

Answer 11

to analyse DNA for deletions and duplications

Question 12

what is the thing aCGH looks for?

Answer 12

balanced rearrangements

Question 13

name two techniques that can be used to analyse single bases in DNA

Answer 13

polymerase chain reaction (PCR)

next generation sequencing (NGS)

Question 14

what is a promotor mutation?

Answer 14

when there is a change in the promotor sequence of DNA

Question 15

what is the promotor sequence?

Answer 15

where transcription begins

Question 16

what can a promotor mutation cause?

Answer 16

reduced transcription or none

smaller protein or none

Question 17

what can loss of an intron or inclusion of an exon cause?

Answer 17

absent or abnormal protein

Question 18

what happens if a base change creates a premature stop codon?

Answer 18

short protein produced or no protein produced

Question 19

what does a mutation beginning with p. represent?

Answer 19

change in the protein sequence

Question 20

what does a mutation beginning with c. represent?

Answer 20

change in the mature mRNA sequence

Question 21

what is penetrance?

Answer 21

the likelihood of having a disease if you have a gene mutation

Question 22

describe the penetrance of mendelian disorders

Answer 22

high

Question 23

what are mendelian disorders?

Answer 23

diseases predominantly caused by a change in a single gene