Crosswords

Question 1

Missense mutation

Answer 1

change in one DNA base pair that results in the substitution of one amino acid for another

Question 2

Nonsense mutation

Answer 2

Change in one DNA base pair that results in a stop codon

Question 3

Example of an interspersed repeat

Answer 3

Alu

Question 4

Satellite DNA is found at the

Answer 4

centromere

Question 5

Frameshift mutation

Answer 5

Insertion or deletion results in change in the reading frame of codons - can have drastic effects

Question 6

Number of H bonds between C and G base pairs

Answer 6

3

Question 7

What is CNV

Answer 7

Copy Number Variation. Usually have 2 copies of gene but number can vary e.g. 1 copy, 3 copies

Question 8

Language acquisition in humans is as a consequence of variation in this gene

Answer 8

FOXP2

Question 9

Type of receptor enriched for CNVs

Answer 9

Olfactory

Question 10

TP53 is an example of a

Answer 10

Tumour supressor gene

Question 11

Robertsonian transactions occur between which type of chrommosomes

Answer 11

Acrocentric - centromere severely offset from middle, producing one very long and one very short arm

Question 12

NIPT

Answer 12

Non-invasive prenatal testing

Question 13

Syndrome caused by mutations in PTEN

Answer 13

Cowden

Question 14

This gland can be abnormal in 22q11.2 deletion (DiGeorge)

Answer 14

Thyroid

Question 15

Beckwith Weidemann syndrome is associated with malignancies in

Answer 15

Kidney

Question 16

Sensory impairment seen in Treacher-Collins

Answer 16

Hearing

Question 17

Syndrome associated with Hirschprung’s

Answer 17

Waardenburg

Question 18

Abdomen abnormality associated with Beckwith Wiedemann

Answer 18

Exomphalos

Question 19

Electrolyte abnormality seen in 22q11.2

Answer 19

Hypocalcaemia

Question 20

Variation at this locus affects age of disease onset in Alzheimer’s

Answer 20

APOE

Question 21

UPD for the ____ chr15 results in PWS

Answer 21

Maternal

Question 22

CpG islands are typically

Answer 22

unmethylated

Question 23

IGF2 gene is expressed on which parental chromosome 11?

Answer 23

Paternal

Question 24

Frequency of CG dinucleotides compared to other dinucleotides

Answer 24

Reduced

Question 25

Reproduction without fertilisation

Answer 25

Parthenogenesis

Question 26

What is DNMT?

Answer 26

DNA methytransferase

Question 27

Modifications that do not alter the underlying DNA sequence are

Answer 27

Epigenetic

Question 28

What type of conception is a complete hydatidiform mole?

Answer 28

Androgenetic

Question 29

What is imprinting?

Answer 29

Parent-of-origin specific mono allelic expression

Question 30

Paternally derived genes are necessary for the development of the

Answer 30

trophoblast

Question 31

Materally derived genes are essential for the development of the

Answer 31

embryo

Question 32

What happens to parental imprints during gametogenesis?

Answer 32

Reset

Question 33

Cause of angelman syndrome

Answer 33

Uniparental disomy of paternal chromosome 15

Question 34

Patients with BRAF mutations may benefit from treatment with this agent

Answer 34

Vemurafenib

Question 35

SNP variation in TPMT gene causes what in relation to drugs?

Answer 35

Variation in toxicity

Question 36

Drug which has shown benefit to patients with CFTR G551D variant

Answer 36

Ivacaftor