Genetics

Question 1

3 major factors influencing allele frequency over time

Answer 1

Genetic drift, selection, migration (founder effect)

Question 2

microdeletion

Answer 2

> 1 kb can’t be seen by karyotype

Question 3

microduplication

Answer 3

> 1 kb can’t be seen by karyotype

Question 4

structural variant

Answer 4

> 50 bp that can be variant

Question 5

FISH

Answer 5

detects deletions, duplications, translocations, 100 kb

Question 6

microarrays

Answer 6

CNV, deletions, duplications, 50 kb

Question 7

short read genome sequencing

Answer 7

sequencing 50-300 bp length fragments

Question 8

aneuploidy detection

Answer 8

karyotype

Question 9

translocation detection

Answer 9

FISH, karyotype or high-throughput DNA sequencing

Question 10

CNV detection

Answer 10

microarray

Question 11

inversion detection

Answer 11

karyotype

Question 12

MEI detection

Answer 12

short and long read DNA sequencing

Question 13

repeat expansion/contraction detection

Answer 13

karyotype/southern blot

Question 14

what type of SV can affect gene dosage

Answer 14

aneuploidy, CNV

Question 15

what type of SV can disrupt coding DNA sequence of a gene

Answer 15

MEI, inversion, CNV

Question 16

mechanism of repeat expansion

Answer 16

slippage of DNA replication or errors of recombination

failure of DNA mismatch repair

Question 17

where does DNA methylation happen

Answer 17

C next to G joined by phosphate (CpG)

Question 18

direct acting carcinogens

Answer 18

don’t require metabolic conversion, chemotherapeutic drugs

Question 19

differences between benign and malignant neoplasms

Answer 19

differentiation, local invasion, metastasis, growth rate

Question 20

mechanism responsible for tumor invasion

Answer 20

tumor cell-ECM intx

1. changes of tumor cell-cell intx
2. degradation of ECM
3. change in attachment of tumor cells to ECM
4. locomotion, migration

Question 21

cardinal property of malignant tumor growth

Answer 21

metastasis

Question 22

cancer syndrome associated with mutation in oncogene

Answer 22

mutation in protooncogene (multiple endocrine neoplasia type 2)
only need one allele to have mutation

Question 23

cancer syndrome associated with mutation in tumor suppressor

Answer 23

2 hit hypothesis (retinoblastoma, li fraumeni, HBOC, HNPCC)

Question 24

chromosome instability syndromes

Answer 24

problems in DNA repair genes (genomic instability syndromes)
ataxia telangiectasia, fanconi anemia

Question 25

what can ASOs do

Answer 25

target mutations by targeting RNA target splice sites to modulate splicing target translation start sites to prevent translation

Question 26

what happens when you block NMD

Answer 26

ASOs block poison exons to increase amount of protein and give mechanism to increase protein in haploinsufficient conditions

Question 27

BRCA 1/2 testing conditions

Answer 27

Personal history of ovarian cancer Personal history of breast cancer diagnosed at ≤ 45 years of age Personal history of breast cancer diagnosed at ≤ 50 years of age with ≥ 1 FDR with breast cancer at any age Personal history of breast cancer diagnosed at any age with ≥ 1 FDR with breast cancer diagnosed at ≤ 50 years of age Personal history of breast cancer diagnosed at any age with ≥ 1 FDR with ovarian cancer

Question 28

what do you need for gene editing

Answer 28

enzyme that breaks DNA and enzyme that recognizes break

Question 29

3 parts of CRISPR

Answer 29

Cas9, guide RNA, PAM sequence