Molecular 1

Question 1

IN FISH, truncation artifact can lead to

Answer 1

false neg

Question 2

major disadvantage of nested PCR

Answer 2

high rate of contamination

Question 3

competitive PCR is used for

Answer 3

quantitation

Question 4

transcrition mediated amplification and nuclei acid sequence based amplification are both

Answer 4

isothermal

Question 5

main advantage of TMA and NASBA

Answer 5

obviation of DNA contamination

Question 6

strand-displacement amplification is

Answer 6

isothermal

Question 7

branched DNA and hybrid capture are both

Answer 7

signal amplification

Question 8

southern blot method

Answer 8

DNA enzyme digested and and electophoresed

Question 9

southern blot traditionally used for

Answer 9

clonality in lymphoid neoplasms

Question 10

example of use for LOH studies

Answer 10

1p and 19q deletions in oligodendrogliomas

Question 11

significant methylation leasds to

Answer 11

inactivation of a region of DNA

Question 12

metacentric chromosomes

Answer 12

1, 3, 16, 19, 20

Question 13

acrocentric chromosomes

Answer 13

13, 14, 15, 21, 22

Question 14

Robertsonian translocation

Answer 14

breaks near centromeres with minimal loss

Question 15

pericentric inversion

Answer 15

incolves the centromere

Question 16

X-linked dominant disorders

Answer 16

hypophosphatemic rickets,

incontinentia penmenti type 1

Question 17

Hardy-Weinberg equation

Answer 17

p2 x 2pq x q2 = 1

Question 18

Which chains rearrange first in Tcell development

Answer 18

Gamma-delta

Question 19

Can and alpha-beta expressing Tcell lymphoma display a clonal gamma or delta gene rearrangement

Answer 19

yes

Question 20

Which TCR chain to PCR assays often look for

Answer 20

gamma

Question 21

Southern blot unequivically positive if

Answer 21

bands appear in at least 2 restiction enzymes

Question 22

Miur-Torre

Answer 22

hereditary non-polyposis colon cancer and sebaceous neoplasms

Question 23

mismatch repair genes and frequency of mutation of each in HNPCC

Answer 23

MLH1 - 40%
MSH2 - 40%
MSH6 - 10%
PMS2 - 5%

Question 24

MSI assd colon cancers may be do to HNPCC or

Answer 24

sporadic (often hypermethylation) only present in tumor

Question 25

MSI-high =

Answer 25

differences in 2 or more markers

Question 26

Lymch Syndrome II

Answer 26

also endometrial and ovarian CAs

Question 27

Sporadic MSI tumors assd with what precursor lesion

Answer 27

serrated adenoma

Question 28

HIstologic clues to MSI tumors

Answer 28

Right colon, mucious/signet ring, tumor infiltrating lymphs, “Crphn’s like” infiltrate, pushing margins

Question 29

Gold standard for HNPCC testing

Answer 29

DNA-base

Question 30

2 dzs all states test newborns for

Answer 30

PKU

Congenital hypothyroidism

Question 31

PKU enzyme

Answer 31

phenlyalanine hydroxlyase

Question 32

Galactosmia enzyme

Answer 32

galatose-1-phosphate uridyl transferase (GALT)

Question 33

Infection in galactosemic patients

Answer 33

E. coli sepsis

Question 34

Tay-Sachs enxyme

Answer 34

hexosaminidase A (accumulation of glycosphingolipid

Question 35

Zellweger syndrome

Answer 35

Peroxisomal disorder, adrenoleukodystrophy
plasma very long chain fatty acids
PEX1 mutations