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Year Three - Specialities > Genetics - Genetic Testing > Flashcards

Genetics - Genetic Testing Flashcards

1
Q

What is karyotyping?

A

It is a technique that produces an image of an individual’s chromosomes

The chromosomes are ordered in size and grouped together in their pairs

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2
Q

What does karyotyping detect?

A

It is used to detect abnormal numbers or structures of chromosomes

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3
Q

What are the three types of chromosome structures?

A

Metacentric

Sub-metacentric

Acrocentric

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4
Q

What are metacentric chromosomes?

A

Those which have the centromere in the centre so that both sections are of equal length

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5
Q

What are submetacentric chromosomes?

A

Those which have the centromere slightly offset from the centre leading to a slight asymmetry in the length of the two sections

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6
Q

What are acrocentric chromosomes?

A

Those which have a centromere which is severely offset from the centre leading to one very long and one very short section

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7
Q

What are FISH studies?

A

It is a technique that identifies where a particular gene falls within an individual’s chromosomes

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8
Q

How do we conduct FISH studies?

A

We use fluorescent probes that are complementary to the genes we are trying to locate within the chromosome

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9
Q

What are the four types of FISH probes?

A

Unique Sequence Probes

Centromeric Probes

Telomeric Probes

Whole Chromosome Probes

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10
Q

What are unique sequence probes?

A

These probes bind to specific small segments of certain chromosomes

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11
Q

What two chromosomal abnormalities are detected by unique sequence probes?

A

Microdeletion

Microduplication

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12
Q

What are centromeric probes?

A

These probes target the centromeric region of the particular chromosome

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13
Q

What is the function of centromeric probes?

A

They allow us to enumerate the number of centromeres and thus chromosomes of a particular kind

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14
Q

What are telomeric probes?

A

These probes bind to telomeres, which are the repeat sequences found at the end of the chromosomes

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15
Q

What are whole chromosome probes?

A

These probes are usually collections of smaller probes, each of which bind to a different sequence along the length of a given chromosome

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16
Q

What two chromosomal abnormalities are detected by whole chromosome probes?

A

Translocations

Rearrangements

17
Q

What does PCR testing detect?

A

It is used to detect where DNA is replicated, allowing genes of interest to be screened for

18
Q

What are the five substances required to carry out PCR?

A

Sequence Information

Oligonucleotide Primers

DNA

Nucleotides

DNA Polymerase

19
Q

What are the three PCR steps?

A

Denaturation

Annealing

Elongation

20
Q

What is denaturation?

A

This is where the sample is heated to allow the double-stranded DNA to be separated into single strands

This is due to the fact that the heat is able to break the hydrogen bonds between the nucleotide base pairs in the two strands of DNA

21
Q

What temperature is used during denaturation?

A

93-95 degrees

22
Q

What is annealing?

A

This is where the sample is cooled

The DNA primer will bind to the target DNA sequences on the two DNA strands

23
Q

What temperature is used during annealing?

A

50-70 degrees

24
Q

What is elongation?

A

New strands of DNA are made using the original strands as templates

A DNA polymerase enzyme joins free DNA nucleotides together

The order in which the free nucleotides are added is determined by the sequence of nucleotides in the original DNA strand

25
Q

What temperature is used during elongation?

A

70 - 75 degrees

26
Q

What is the result of one PCR cycle?

A

Two double-stranded sequences of target DNA, each containing one newly made strand and one original strand

27
Q

What is gel electrophoresis?

A

It is used to separate DNA, RNA fragments or proteins based on their size and charge

28
Q

How do we conduct gel electrophoresis?

A

It involves running a current through an agarose gel containing the molecules of interest

Based upon their size and charge, the molecules will travel through the gel in different directions and speeds, allowing them to be separated from one another

29
Q

What is restriction fragment length polymorphism (RFLP) analysis?

A

It is a technique that exploits variations in homologous DNA sequences, known as polymorphisms

30
Q

How do we conduct RFLP analysis?

A

It involves a fragmenting a sample of DNA with the application of enzymes, known as restriction endonucleases

These enzymes can selectively cleave a DNA molecule wherever a short, specific sequences is recognised

We then transfer these DNA fragments to a blotting sheet, where we add a labelled DNA probe

This DNA probe determines the length of the fragments which are complementary to the probe

A restriction fragment length polymorphism is said to occur when the length of a detected fragment varies between individuals, indicating non-identical sequence homologies

31
Q

What are restriction endonucleases?

A

They are enzymes from bacterial cells which are able to recognise specific DNA sequences and always cut DNA at the same site

32
Q

What is an amplification refractory mutation system (ARMS)?

A

It is a method for detecting any mutation involving single base changes or small deletions

33
Q

How do we conduct ARMS?

A

It involves the application of sequence-specific PCR primers that allow amplification of DNA when the target allele is contained within the sample

Therefore, the presence or absence of a PCR product allows us to determine the presence or absence of the target allele

If the target allele is present, then amplification of the DNA sequence will occur

34
Q

What does ELISA testing detect?

A

It is used to screen for specific antibodies in a patients serum

35
Q

What does Eastern blot testing detect?

A

The post-translational modification of proteins

36
Q

What does Western blot testing detect?

A

It is used to separate and identify proteins

37
Q

What disease is detected using Western blot testing?

A

Mad cow disease

Year Three - Specialities (15 decks)

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