Quiz 4 review

Question 1

molecular disorders are

Answer 1

primary disease causing event is altered either inherited or acquired that affects genes

Question 2

hemoglobinopathy is

Answer 2

the basic genetic and biochemical mechanisms

Question 3

mutations that occurs in protein coding genes will

Answer 3

cause disease that will affect 1 of 4 different protein functions

Question 4

what are the 4 types of mutations in protein function

Answer 4

loss of function, gain of function, novel property mutations (new a.a.), and mutations with heterochronic or ectopic gene expression

Question 5

what is the most common mutation of protein function

Answer 5

loss of function

Question 6

mutations that are involved in gene regulation are

Answer 6

likely located conserved or functional important

Question 7

mutations involved in RNA stability are

Answer 7

likely associated at 5’ or 3’ UTR

Question 8

what is is missense mutation

Answer 8

change in amino acid

Question 9

what is nonsense mutation

Answer 9

amino acid changed to STOP amino acid

Question 10

what is frameshift mutation

Answer 10

insertion of amino acid

Question 11

what is silent mutation

Answer 11

mutation where same amino acid is expressed

Question 12

explain loss of function mutations

Answer 12

deletions that cause reduction in gene dosage

Question 13

novel property mutations are

Answer 13

infrequent amino acid sequence

Question 14

mutations associated with heterochronic or ectopic gene expression often result in

Answer 14

inappropriate expression and increase cell proliferation

Question 15

8 stages of mutations will result in

Answer 15

disruption of normal productions of a protein

Question 16

allelic heterogeneity are

Answer 16

multiple alleles at a single locus

Question 17

locus heterogeneity are

Answer 17

mutations in > 2 genes

Question 18

heme is a

Answer 18

iron containing pigment that combines with oxygen

Question 19

predominant hemoglobin throughout

Answer 19

fetal life ~ 70% of total hemoglobin at birth

Question 20

~20 kb deletion upstream of LCR of beta globin complex results in

Answer 20

disease since LCR is required for gene expression

Question 21

Hb Kempsey results is a result of what mutation

Answer 21

Asp99Asn

Question 22

what affects does the mutation occur in Hb Kempsey

Answer 22

substation keeps the Hb in its high oxygen affinity structure -> less oxygen to tissues -> polycythemia

Question 23

dysmorphology is

Answer 23

study of congenital birth defects that alter shape or form of one or more body of newborn child

Question 24

malformations occur from

Answer 24

intrinsic abnormalities in one or more genetic programs

Question 25

deformations occur from

Answer 25

extrinsic factors impact physically on fetus development

Question 26

disruptions occur from

Answer 26

result form destruction of irreplaceable normal fetal tissue

Question 27

unexpected environment agents can be

Answer 27

teratogens -> interfere with molecules in the pathways

Question 28

developmental genetics is the study of

Answer 28

mechanisms and pathways responsible for normal human development in utero

Question 29

what term is used to describe a single causative agent causes multiple abnormalities in parallel

Answer 29

syndrome

Question 30

what are the fundamental mechanisms operating in development

Answer 30

1. gene regulation by transcription factors 2. cell-cell signaling by direct contact and by morphogens 3. induction of cell shape and polarity 4. cell movement 5. programmed cell death

Question 31

cells must communicate ____

Answer 31

though cell signaling mechanism

Question 32

cell-cell communication systems composed of a ____ and molecule called ____

Answer 32

cell surface receptor; ligand

Question 33

describe induction of cell shape and polarity

Answer 33

cells must organize themselves with respect to their position and polarity in microenvironment

Question 34

definition of apoptosis

Answer 34

major form of programmed cell death which destroy cell that represent threat to out body

Question 35

fetal cells and epithelial cells from people with polycystic kidney disease express

Answer 35

heterodimer of EGFR and erb-b2

Question 36

neoplasia is characterized by

Answer 36

uncontrolled cellular proliferation leading to mass or tumor

Question 37

what is driver in gene mutations

Answer 37

causative development or progression

Question 38

what is passenger in gene mutation

Answer 38

random, not recurrent

Question 39

two types of drive genes are

Answer 39

oncogenes and tumor suppressor genes

Question 40

oncogenes are what

Answer 40

don't want expressed; activated

Question 41

tumor suppressor genes are due to what

Answer 41

mutations act causes loss of expression of protein that control cancer development

Question 42

what percentage of mutations result in hereditary cancer syndromes

Answer 42

<5%

Question 43

There is a two-hit theory of tumor suppressor gene inactivation in cancer, for mendelian or sporadic cancer, the second-hit mutation is

Answer 43

-> always somatic first hit in Mendelian is germline, second is somatic first hit in Sporadic is somatic, second is somatic

Question 44

the gene TP53 codes for what protein and function

Answer 44

p53 and cell cycle regulation

Question 45

the gene BRCA1 BRCA2 code from what protein and function

Answer 45

BRCA1 BRCA2; chromosome repair in response to double stranded DNA breaks

Question 46

pharmacogenomics is study of

Answer 46

differences between individuals and how they respond to drugs due to allelic variation

Question 47

what 6 genes are responsible for 90% of all used drugs

Answer 47

CYP1A1, CYP1A2, CYP2C9, CYP2C19, CYP2D6, and CYP3A4

Question 48

poor metabolizers result in

Answer 48

overdosing of medication due to accumulation of drug

Question 49

ultrafast metabolizers results in

Answer 49

under dosing of medication due to failing to maintain serum levels