1. Genetics

Question 1

order of PCR

Answer 1

94* denature
55% annealing
72* nucleotide extension w/polymerase

Question 2

Mitotic stages order

Answer 2

IPM ATC

Interphase
Prophase
Metaphase
Anaphase
Telophase
cytokinesis

Question 3

Colchine is used for what

Answer 3

stop cell division during metaphase

see chromosomes

Question 4

Alphoid DNA is a type of what?

Answer 4

Satellite DNA

Question 5

Purpose of alphoid DNA

Answer 5

assembly of DNA centromere

Question 6

Interspersed repeats are what?

Answer 6

Repeats scattered around the genome

Question 7

In allelic heterogenity, what type of phenotypes are present?

Answer 7

multiple

Question 8

In locus heterogeneity what type of phenotype are present

Answer 8

one phenotype

Question 9

If the point mutation is a conservative missense, what does this mean for AA substitution

Answer 9

AA swap in same group

Question 10

A frameshift mutation leads to insertion or deletion of nucleotides …

Answer 10

not divisible by 3

Question 11

Name 3 prenatal diagnostic tests

Answer 11

Amniocentesis
Chorionic villus sampling
non invase prental diagnosis (NIPD)

Question 12

Autosomal dominant inheritance affects what (3)

Answer 12

Structural proteins

Receptors

Transcription factors

Question 13

Penetrance …

Answer 13

Proportion of individuals carrying an allele that express a phenotype

Question 14

Anticipation …

Answer 14

Symptoms of genetic disease become more apparent when passed from generation to generation

Question 15

Lyonisation…

Answer 15

random inactivation of x chromosomes = Barr body

Question 16

What is key in haemophillia in regards to male transmission

Answer 16

there is NO MALE - MALE transmission

Question 17

Most common type of autopsy?

Answer 17

Coroners

Question 18

Reduction in number of blood cells

Answer 18

Cytopenia

Question 19

Syndrome with dislocation of lens - what type of inheritance is it?

Answer 19

Autosomal dominant Marfan Syndrome

Question 20

Bleeding in joints symptom –> Disease

Answer 20

Haemophillia

Question 21

A unit of chromatin of about 200bp of DNA wound around a histone core

Answer 21

Nucleosome

Question 22

evolutionary remnant of DNA sequence that resembles a gene elsewhere in the genome but has mutation that appear to render it inactive

Answer 22

Pseudogene

Question 23

mature mRNA gene

Answer 23

Exon

Question 24

consanguinity

what does it increase risk of

Answer 24

Related members

Increases risk of autosomal recessive disease

Question 25

malignant epithelial tumour

Answer 25

carcinoma

Question 26

mode of transmission that mothers only transmit

Answer 26

mitochondrial

Question 27

type of death that must be reported to coroner

Answer 27

Unnatural

Question 28

Leukaemia causing chromosomal rearrangement

Answer 28

Philadelphia

Question 29

suffix denoting dilatation

Answer 29

ectasis

Question 30

vertical inheritance is typically what type of autosomal inheritance

Answer 30

dominant

Question 31

whats our karyotype

Answer 31

46 chromosomes
23 pairs
22 autosomal
1 pair of sex

Question 32

shape of mitochondrial genome

Answer 32

circular

Question 33

What kind of inheritance is seen between father to son

Answer 33

Autosomal dominant

Question 34

is a balanced reciprocal translocation seen in normal phenotypes?

Answer 34

yes

Question 35

telomerase is seen as what hallmark in cancer cells?

Answer 35

immortality