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Molecular Biology Lecture > 5: Molecular Diagnostics for Forensics and Genetics (FINALS) > Flashcards

5: Molecular Diagnostics for Forensics and Genetics (FINALS) Flashcards

1
Q

In molecular biology, this refers to the study of the human chromosome

A

Genetic

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2
Q

In genetics, this refers to the process of examining complete set of cells in an organism

A

Karyotyping

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3
Q

In genetics, what are the characteristics of chromosomes studied

idk but list it ghorl

A
  1. physical size
  2. structure
  3. main behavior
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4
Q

Most common application of molecular techniques in genetics

A

to identify a CHANGE in chromosomes

or specific mutations in the chromosome

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5
Q

Enumerate the traditional process in studying genes/chromosomes

dapat alam mo na to malaki ka na

A
  1. Cell culture
  2. Metaphase arrest
  3. Hypotonic swelling
  4. Fixation
  5. Chromosome Spread
  6. Aging
  7. Photomicroscopy
  8. Reporting
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6
Q

Review

Identify the reagent used in cell culture

A

Phytohemagglutinin (PHA)

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7
Q

Review

Reagent/inhibitor used to arrest cell division at metaphase

A

Colcemid

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8
Q

Review

Reagent for hypotonic swelling

A

Hypotonic buffer

eme dapat 0.075M KCl at 37° C for 10-20 mins

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9
Q

Reagent for Fixation

A

Carnoy’s fixative

(3:1 ; absolute methanol: glacial acetic acid)

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10
Q

In terms of the manner of reporting, what parameters are considered?

A
  1. pairing of the chromosomes
  2. ba(n)ding patterns
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11
Q

a new technique under the
molecular biology used to match chromosomes

A

In Situ Hybridization (ISH)

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12
Q

In its earliest development, ISH used ________ probes as target labels

A

radiolabeled (radioactive substances)

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13
Q

due to the harmful effects of radiolabeled probes what was the alternative probe used?

A

Fluorescence probes

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14
Q

Type of ISH which uses flurorescence probes

A

Fluorescence In Situ Hybridization

sis kung mali ka ewan nalang

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15
Q

➢ a tagging technique
➢ A method on how we add the probe into the
sample or reagent
➢ It is a process wherein the DNA polymerase I is used to replace some nucleotides of
DNA sequences

A

Nick Translation

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16
Q

STUDY MO GENERAL PROCEDURE NG FISH

shoo shoo

A

congrats kung binasa mo, kung hindi magbasa ka na

Nick translation -> denaturation -> required antibodies (labeled) -> visualization (microscope)

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17
Q

Main advantage of FISH

A

➢ specifically see the exact location of the gene
➢ less hazardous (compared to using radiolabeled probes

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18
Q

Enumerate the advanced applications of FISH

A
  1. INTERPHASE FISH
  2. WCP (Whole Chromosome Painting)
  3. MFISH (Multicolor – FISH)
  4. SKY (Spectral Karyotyping)
  5. ALL – TELOMERE – FISH
  6. Comparative Genomic Hybridization
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19
Q

Advanced Application of FISH

not arrested in the metaphase stage; instead, what is checked here is the interphase stage.

A

Interphase FISH

basic btch

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20
Q

Adv. Appli of FISH

Advantages of Interphase FISH

A
  • NO cell culture required, thus
    the diagnosis is much rapid
  • You will proceed immediately to
    hybridization (in situ technique is directly
    performed)
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21
Q

Adv. Application of FISH

In this application, different or many types of
probes are used from a SINGLE chromosome

A

WCP (Whole Chromosome Painting)

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22
Q

Adv. Application of FISH

Main principle of WCP

A

On the single chromosome, there are
LOTS of UNIQUE DNA associated with
it.

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23
Q

Adv. Application of FISH

Main advantage of WCP

A

for seeing or looking for any rearrangements (i.e.,
interchanged long and short arms) in the
chromosome

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24
Q

Adv. Application of FISH

Almost the same as WCP but the main difference is that there is a system/software installed

A

Multicolor FISH (MFISH)

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25
Q

Adv. Application of FISH

Main advantages of MFISH

A
  • automated (has computer-assisted system)
  • Fixed profile, which you’ll only need to compare to the sample
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26
Q

Adv. Application of FISH

  • permits the display and identification of all 24 human chromosomes using painting probes
  • multiple chromosomal aberrations are detected
A

Spectral Karyotyping

definition from taken fr both lec and cyto

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27
Q

Adv. Application of FISH

Main advantage of SKY

A

allows the observation of multiple chromosomal aberratios or changes

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28
Q

Adv. Application of FISH

The main probe/label is a telomere probe

A

ALL - Telomere FISH

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29
Q

Adv. Application of FISH

Detects six base repeats present at the ends of all chromosome

A

ALL - Telomere FISH

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30
Q

Adv. Application of FISH

Main advantage of All-Telomere FISH

A

used as a confirmatory assay (presence/absence of telomeric regions)

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31
Q

Adv. Application of FISH

you simply compare the DNA content of
a differentially labeled normal and abnormal
cell population

A

Comparative Genomic Hybridization

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32
Q

Enumerate the 3 Main Applications of FISH

A
  1. DIAGNOSIS
  2. PROGNOSIS
  3. EVALUATE

2 sis ate

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33
Q

3 Main Appli. of FISH

Refers to identifying some of the inherited diseases or those associated with mutation

34
Q

3 Main Appli. of FISH

pertains to certain conditions whether good or bad; or whether there is a presence of a mutated gene

35
Q

3 Main Appli. of FISH

Refers to asssesing possible remission of a certain disease

Q asked: Is it possible that a specific condition may recur?

36
Q

TOF. Anything associated with genetics or genes are applicable for FISH

37
Q

IDK beh study the advantages of FISH ig

A
  1. Much more specific
  2. Distinguish one disease from another
  3. Detect diseased cells more easily and
    rapidly, without requiring living cells
    (since p’wede na yung fixed sa culture)
  4. Can be quantitated through automated
    methods
  5. Less labor intensive, which will give a
    much more rapid time for the turnaround
    time.
38
Q

Match the type of Specimen according to purpose + handling and transport

Heparinized peripheral Blood

A

Purpose: Routine;
adults and
children
H&T: Room temp

39
Q

Match the type of Specimen according to purpose + handling and transport

Bone marrow aspirates

A

Purpose: Hematologic disorders
H&T: Room temp

40
Q

Match the type of Specimen according to purpose + handling and transport

Skin biopsies

A

Purpose: Fibroblast cultures
H&T: Ice

41
Q

Match the type of Specimen according to purpose + handling and transport

Tissues (Kidney, Liver, Muscle, and Lung)

A

Purpose: obtained after death or fetal loss (not routine)
H&T: Ice

42
Q

Match the type of Specimen according to purpose + handling and transport

Amniotic Fluid

A

purpose:Prenatal Analysis
H&T:Room temp

43
Q

Match the type of Specimen according to purpose + handling and transport

Chorionic villus

A

Purpose: prenatal analysis
H&T: room temp

44
Q

Match the type of Specimen according to purpose + handling and transport

Fetal Blood from umbilical cord

A

Purpose: Rapid karyotyping
H&T: room temp

45
Q

Done so as to detect congenital inherited or
genetic diseases or disorders

A

Prenatal analysis

46
Q

One of the most powerful tools in the fight against crime and other legal matters is the DNA testing.

A

Forensic Science

47
Q

First application that comes to mind with regards to forensic science

A

Identifying criminal suspects

48
Q

Familiarize the old methods associated with identifying criminal suspects (old methods)

A
  1. Hair
  2. Bone
  3. Fingerprints
  4. Blood
49
Q

Identify the specimen used in identifying criminal suspects (old method)

  • common specimen
  • gives an indication of age, sex, and race
  • comparison using this specimen allows police to identify people, with an error rate of 1 in 4500
50
Q

Identify the specimen used in identifying criminal suspects (old method)

  • common specimen
  • age, sex race, and sometimes medical history can be determined
  • obtained from a disaster site
51
Q

Identify the specimen used in identifying criminal suspects (old method)

  • most common
  • introduced in the late 1800s
  • main principle lies in the fact that this specimen is unique in each indivduals
A

Fingerprints

52
Q

Disadvantage of fingerprint as an evidence in identifying criminal suspects

A

easy to remove

wear gloves kung papatay

53
Q

Identify the specimen used in identifying criminal suspects (old method)

  • considered as the best sample
  • 4 major groups were discovered in the 1900s
54
Q

TOF. Blood typing is a powerful tool for resolving criminal matters

A

F. legal po

55
Q

Disadvantages of Blood samples in identifying criminal suspects

A

More blood groups have been discovered over the past 100 years, but even these cannot provide the same level of identification as DNA testing.

tl;dr: ABO system is not the only existing blood group

56
Q

TOF. In forensics, blood typing is the best method in identification

A

F. dna testing

57
Q

Major technique employed in identifying criminal suspects

A

Molecular Techniques

58
Q

TOF. Current DNA technology allows any individuals to be distinguished from all other individuals.

58
Q

Enumerate samples from which we can isolate and extract DNA

A
  • blood
  • semen
  • saliva
  • bone
  • teeth
  • microscoping flecks of skin
  • other tishoes
58
Q

TOF. DNA can be found even in inanimate or non-living objects

A

T

laway on a table kc madaldal ka, hello?

59
Q

Study mo tong list kung d mo pa know ang objects where DNA may be found

A
  1. Chewing Gum
  2. Stamps and Envelopes
  3. Penile Swabs
  4. Washed Stains
  5. Door Knobs
  6. Tooth Brushes
  7. Sanitary Pads
  8. Tooth Pulp
  9. Sweaty Clothing
  10. Telephones
  11. Bone Marrow
  12. Hair Brushes
59
Q

Main challenge in DNA testing

A

different samples may contain different concentrations of DNA

some samples have a lot of DNA some may konti

pa pcr mo nalang (- a concerned mls student)

59
Q

disadvantage of using objects where DNA may be found for forensics

A

very low concentration of DNA obtained

pa pcr mo ulit

60
Q

study mo dna content of biological samples picture, yes now na

A

ayaw mo? edi wag!

60
Q

The highest amount of DNA can be obtained in?

A

Male semen

yuck boyz

250,000 ng/mL

61
Q

best specimen if one wants to investigate crime associated with sexual assault

A

Semen

kasalanan to ng mga lalaki

62
Q

TOF. blood samples contain a minimal amount of DNA

A

F (high amounts; 30,000 ng/mL)

63
Q

TOF. DNA can also be obtained in hair samples

tru

A

True

sabi sayo eh (lower amounts; need plucked from the hair root)

pa pcr mo ulit, skill issue

64
Q

DNA CONTENT NG SALIVA DALI

A

5,000 ng/mL

65
Q

Best method for paternity and maternity testing

A

DNA testing

66
Q

can help answer questions about biological
descendants of a particular family (ancestral lineage)

baka si lord to

A

DNA Analysis

67
Q

Familiarize other uses of DNA for forensic identification

A
  1. Identify organ donors with recipients in transplant programs
  2. Identify human migration patterns
  3. Use of DNA forensic science in military matters (victims of war crimes, war, plane crashes, etc.)
68
Q

Recall

Human cells contain how many pairs of chromosomes?

69
Q

working portions in our
chromosomes which we refer to as

70
Q

short sequences of bases that repeats many times.

A

Short Tander Repeats (STRs)

71
Q
  • theoretically, more than 30% of the human genomes consist of these
  • Satellite DNA
  • acts as fillers or spaces between coding portions of the chromosome
A

Short Tandem Repeats (STRs)

72
Q

Among all satellite DNAs, the most commonly used is?

A

chromosome 11 (C11)

73
Q

How will you know if a certain sequence is a Satellite DNA?

A

As long as there are two repeating sequences

take note: 2-5 repeating sequences are called micro-satellite DNA

mini-satellite: 9-10 repeating sequences

74
Q

Main advantage of micro-satellite DNA

A

can survive degraded DNA

75
Q

TOF: The length of the repeats (STRs) is inherited and differs from person to person

Molecular Biology Lecture (17 decks)

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