Mole

Question 1

typical karyotype

Answer 1

15-20 cells

Question 2

karyotype for mosaicism or other special

Answer 2

10-30 additional cells

Question 3

karyotype what phase

Answer 3

metaphase

Question 4

FISH cell phase

Answer 4

metaphase or interphase

no culture required for interphase

Question 5

minimum cells in FISH

Answer 5

20

Question 6

total amplification expression

Answer 6

(1 + e)^n

Question 7

DNA extension begins at what end

Answer 7

3’ end

Question 8

two pairs of primers for 2 rounds of PCRs
increased sensi and specificity

Answer 8

nested PCR
high rate of contamination

Question 9

2 or more primer sets for amplification of different targets in same reaction mixture

primers must be noncomplementary

Answer 9

multiplex PCR

Question 10

anti-metatype Ab use

Answer 10

estradiol and 25 OH vit D

Question 11

coamplification in same tube of 2 diff. templates of equal or similar lengths and with same primer binding sequences

amount of one of the templates must be known

Answer 11

competitive PCR

Question 12

amplification and detection occur simultaneously in same tube (homogenous)

monitor fluorescence emission

SYBR Green 1

Answer 12

qPCR
real time PCR

Question 13

in qPCR, where are the probes located

Answer 13

3’ - donor dye
5’ - acceptor dye

Question 14

telomere sequence

Answer 14

TTAGGG

Question 15

chromosome with short arm composed of stalks and satellites

Answer 15

acrocentric

Question 16

amniocentesis
volume
weeks
risk of fefal loss

Answer 16

20-30ml
16-18 wks
0.2-0.3%

Question 17

chorionic villus sampling
wks
risk of fefal loss
what cannot be tested

Answer 17

10-14 wks
1%
AFP

Question 18

cordocentesis or percutaneous umb blood sampling
wks
fetal loss risk

Answer 18

> 20 wks
2-5%

Question 19

culture days for bone marrow, lymphs, chorionic villi, amniocytes, solid tissue

Answer 19

BM- 24-48 hrs
lymphs - 3-4 days, induced by phytohemagglutinin, collected by mitotic inhibitor colcemid
CV and amniocytes - 5-7 days
solid tissue - 2 wks

Question 20

use of Q-banding

why is G-band preferred

Answer 20

rapid ID of y chromosome

Q-banding fluorescence is transient

Question 21

use of R-banding

Answer 21

reverse of G-banding, for telomeres to appear as dark bands

Question 22

to detect very small deletions, what is the smallest that can be detected in karyotype analysis

Answer 22

harvest at prometaphase
3MB

Question 23

cocktail of many unique DNA fragments, to identify complex rearrangements of marker chromosomes

Answer 23

chromosome painting

Question 24

used in chromosome enumeration to detect gain/loss of specific chromosomes

Answer 24

repeat sequence

Question 25

from cloned dna of a disease-causing gene or dna fragment of known location to identify presence/absence of gene, region, chromosomal rearrangement

Answer 25

unique sequence

Question 27

characterize cryptic subtelomeric deletions or rearrangements assoc with unexplained mental retardation

Answer 27

subtelomere probes

Question 28

wolf-hirschhorn syndrome

Answer 28

4p- syndrome terminal deletion of 4p

Question 29

fragile X repeat

Answer 29

CGG

Question 30

fragile X mutation full pre gray area

Answer 30

>200 55-200 to 230 46-54

Question 31

detects mutations causing premature termination of gene’s polypeptide product

Answer 31

protein truncation test

Question 32

CA 72-4

Answer 32

Gastric CA