Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MCB1 Block 4 > Molecular Diagnostics 4 > Flashcards

Molecular Diagnostics 4 Flashcards

1
Q

Can you sequence genomic DNA directly?

A

no

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what do you do first to sequece genomic DNA

A

isolate genomic DNA

PCR amplify

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What do you use at template for sequencing DNA

A

PCR amplified DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What do you sequence for DNA

A

both alleles simultaneously

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what is the issue with sequencing both alleles simultaneously for DNA sequencing

A

if there is mutation on one allele, whe you run a gell there will be two bands at the position there is a mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the mode of inheritance for beta thalassemia

A

AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

what regions does beta thalassemai have high incidence rate

A

mediterranean and africa (same as sickle cell)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Pt has hypochromia, osteoperosis abrnomalities, abnormalities of skull and bones, iron overload in liver, what is the disease

A

beta thalassemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

why is there iron overload in beta thalassemia

A

secondary to blood transfusions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what kind of mutation causes beta thalassaemia

A

null mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What kind of protein is produced with null mutation

A

no protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

If premmature stop codon is instroduced what will hapepn to protein

A

No protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is next generation sequencing

A

high-throughput, massively parallel. just a new technology that sequences very quickly, there are multiple kinds

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the advanatges of next gen sequecing

A

very fast
less expensive
useful for whole genome resequencing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

what are the disadvantages of next gen sequencing

A

not useful for de novo sequencing
high error rate
not targeted so can’t sequence a single gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What techniques can be used to identify known mutations

A

RFLP
ASO
PCR

17
Q

What techniques can be used to find changes in copy number (deletions, duplications)

A

FISH
CGH
MLPA

18
Q

What techniques can be used to identify novel mutations

A

sequencing

19
Q

If you don’t know anything about gene, where it is, where mutation is

A

allele-tracking

20
Q

What is allele tracking

A

follow family pedigree and can follow how disease goes through pedigree

21
Q

What are VNTRs

A

variable number of tandem repeats. also called short tandem repeats

22
Q

what type of polymorphic marker is most used in allele tracking

A

CA-rpt marker, a type of VNTR

23
Q

The higher the degree of polymophism, the what to eh population (about the marker)

A

the better the marker

24
Q

How do you determine which of the 2 chromosomes is maternal or paternal in origin, etc. when doing allele tracking

A

use polymorphic markers

25
Q

why do we use polymorphic markers in allele tracking

A

polymorphic & known location in genome

26
Q

paternal relationships b/w a man and infant can be best determined by the technique commonly referred to as dna fingerprinting. which of the following sequencing is most conveniently analyzed in a DNA fingerprint

A

microsatellite tandem repeats (STRs) AKA VNTR

27
Q

what is another name for VNTR

A

microsatellite tandem repeats

28
Q

how do we analyze the VNTR

A

can measure the number of repeats by PCR amplifying across the repeat region & measuring size of product

29
Q

what is the name of short tandem repeats

A

VNTR

30
Q

What can you use to analyze VNTR

A

capillary or gel

31
Q

Why do you want more highly polymorphic markers

A

the more allelles that are found in the population (the more polymorphic) the more likely they will be different

32
Q

explain the M&M explanation

A

you want to find two different alleles, so the more alleles you have available the more likely it will happen you’ll pick a different one

33
Q

is the genotype itself diagnositc

A

no

34
Q

mutations are what regarding family

A

family specific

35
Q

what are the 4 steps for gene tracking

A
  1. determine mode of inheritance
  2. determine which family member must be informative and whether or not they are
  3. establish the phase
  4. type the consultand
36
Q

you are considered informative if you have what

A

two different alleles: heterozygous

37
Q

what does it mean to establish the phase

A

determine which marker allele is on the same chromosome as disease mutation

38
Q

who is the consultand

A

the child, the one you are trying to figure out if they are carrier or affected by disease

MCB1 Block 4 (17 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions