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Medical Genetics > Genetic testing techniques- Seminar 2 > Flashcards

Genetic testing techniques- Seminar 2 Flashcards

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Biology 101 flashcards USMLE® Step 1 flashcards
1
Q

Cytogenetic methods- tests

A

Cytogenetic method- G banding technique

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2
Q

Molecular cytogenetic methods

A

FISH

Comparative genomic hybridisation (CGH)

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3
Q

Molecular- genetic methods

A

Array CGH
Sanger sequencing
Next gen sequencing

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4
Q

When to use cytogenic analysis?

A
  • Multiple congenital anomalies
  • Intellectual disability w/ or w/o dysmorphic features
  • Ambiguous genitalia
  • Impaired growth and puberty
  • Infertility, miscarriages
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5
Q

Advantages of cytogenetic analysis

A
  • Gives info on all 23 pairs of chromosomes in a single array
  • Used for diagnosis of balanced chromosomal rearrangements
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6
Q

Disadvantages of cytogenetic analysis?

A
  • Takes 10-14 days due to cell cultivation
  • Can’t detect submicroscopic rearrangements- microdeletions/duplications
  • Can’t be used to detect single-gene disorders
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7
Q

Cytogenetic/chromosomal analysis definition

A

Chromosomal analysis or karyotyping refers to the analysis of metaphase chromosomes
- it detects numerical and structural chromosomal abberations

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8
Q

What are banding techniques in cytogenetics used for?

A

To produce a UNIQUE visible karyotype by staining condensed chromosomes

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9
Q

G- banding (giemsa)

A

Metaphase chromosomes are treated with trypsin to partially digest the proteins and then stained with GIEMSA STAIN
- can observe light and dark bands

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10
Q

Giemsa stain

A

Regions of DNA rich in A & T- DARK COLOUR

Regions of G & C- LIGHT COLOUR

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11
Q

FISH- Fluorescent in Situ Hybridisation

A

Combines molecular and cytogenetic testing
- is based on the ability of a portion of a ss DNA to anneal with its complementary target sequence on a metaphase chromosome

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12
Q

Result of FISH is based on…

A

the number of signals detected when scanning the slide with a fluorescence microscope

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13
Q

Advantages of FISH

A

Short turnaround time

Can detect microdeletions and duplications

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14
Q

Limitations of FISH

A

Only specific regions can be studied and detected

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15
Q

Applications of FISH

A

Detects

  • abnormalities of chromosomal structure
  • marker chromosomes
  • mosaicism
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16
Q

CGH- Comparative genome hybridization method

A

used to analyse the whole genome for the loss or gain of genetic material in a single experiment

17
Q

Limitations of CGH array

A

Can’t identify balanced rearrangements- translocations and inversions
-no diagnosis of single gene disorders

18
Q

Applications of array CGH

A

detects chromosomal rearrangments

-cancer genetics

19
Q

CGH

CGH ARRAY

A

Molecular cytogenetic

molecular genetic- uses DNA microarray/chip

20
Q

stages of dna analysis

A

dna
extraction
amplication
analysis

21
Q

sources of dna

A
  • EDTA
  • fresh, frozen tissue sample
  • chorionic villus biopsies
  • cultured amniocytes
  • buccal swabs
22
Q

PCR - what is it used for

A

replicating a short specific DNA sequence very quickly

can be used for sequencing, cloning, analysis

23
Q

PCR stages

A

denaturation of ds dna,
annealing of oligonucleotide primers,
synthesis of dna by thermastable dna polymerase

24
Q

PCR CYCLE

A

heating and cooking repeated 20 -40 times for 2hrs

25
Q

limitations of PCR

A

nucleotide sequence of gene must be known in order to synthesise the primers
-used for detection of specific mutations only

26
Q

Sanger sequencing

A

determines the nucleotide sequence of dna

27
Q

Next generation sequencing (NGS)

A

can sequence entire human genome in a day

28
Q

NGS- Whole exome sequencing

A

sequences all the protein-coding regions of genes in a genome

29
Q

NGS- whole genome sequencing

A

determines complete dna sequence

30
Q

when is whole exome/genome sequencing done

A
  • intellectual disability of unknown origin
  • dysmporphic syndrome
  • familial cancer
31
Q

paternity testing

A

uses dna fingerprints to detect mini satellite sequences

Medical Genetics (4 decks)

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