Molecular Medicine Flashcards Preview

Biochem V > Molecular Medicine > Flashcards

Flashcards in Molecular Medicine Deck (36):
1

How does indirect detection function?

follow the inheritance of a marker closely tied to a mutated allele

2

WES?

whole exome sequencing

3

WGS?

whole genome sequencing

4

Can sequencing differentiate between maternal and paternal chromosomes?

no

5

CNV?

copy number variation

6

What are the two techniques used to detect copy number variations?

comparative genome hybridization and FISH

7

ASO?

allele specific oligonucleotide

8

What are ASOs used to detect?

SNPs and mutations

9

What is the most common gene to be mutated to produce sickle cell anemia?

beta-globin

10

Malignant hyperthermia syndrome features what defective protein?

ryanodine receptor

11

What are the two sources of DNA for prenatal screening?

amniotic fluid and chorionic villus

12

What two bills (laws) protect against genetic discrimination?

HIPPA and GINA

13

What cells produce antibodies?

B-lymphocytes

14

What are polyclonal antibodies?

recognize multiple epiitopes of an antigen

15

A hybridoma cell line consists of a fusion of what two cell types?

myeloma and B-lymphocyte

16

What is the function of ELISA?

to detect and quantify antigens in vitro

17

What three proteins are often detected in ELISA?

PTH, Hba1C, CRP

18

An indirect ELISA is used to detect the presense of what?

antibodies

19

Indirect ELISA is used to detect which two diseases?

HIV and autoimmune diseases

20

Rheumatoid arthritis is an autoimmune disease against what?

IgG

21

What is CNV?

copy number variation

22

What two techniques are used to detect CNVs?

comparative genome hybridization and FISH

23

How does FISH identify CNVs?

fluorescent probe

24

What are ASOs?

allele specific oligonucleotides

25

What are ASOs used to specifically identify?

SNPs

26

Malignant hyperthermia features what defective protein?

ryanodine receptor

27

What two drugs can exacerbate malignant hyperthermia?

halothane and succinyl choline

28

What is the mechanism of action for warfarin?

Vitamin K epoxide reductase

29

What enzyme degrades warfarin?

CYP2C9

30

What happens to warfarin levels with a mutation in CYP2C9?

levels rise

31

What cell produces antibodies?

B-cells

32

What is a sandwich ELISA used to quantify?

antigens

33

A sandwich ELISA is used to quantify which three human proteins?

PTH, CRP, HbA1c

34

What is an indirect ELISA used to quantify?

antibodies

35

What size of fragment does CGH detect?

kilo to mega base range

36

Does prenatal screening carry a risk of spontaneous abortion?

yes. 2-3%