Mutations and genetic analysis Flashcards Preview

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Flashcards in Mutations and genetic analysis Deck (33)
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1
Q

3 types of chromosomal abnormalities

A

Numerical
Structural
Mutational

2
Q

When is there a high incidence of mutation in pregnancy

A

First trimester with trisomy

3
Q

Mostly maternal non disjunction syndromes - trisomy

A

Patau - extra 13
Edwards - extra 18
Down - extra 21
Klinefeller - XXY

4
Q

Monosomy

A

Turners have one X

5
Q

Downs syndrome

A

Advancing maternal age and problem with non disjunction

Facial dysmorphologies, 50-60 years and alzheimers

6
Q

Patau syndrome

A

5% die in first month and due to non disjunction

7
Q

Edwards syndrome

A

Developmental problems

8
Q

Turners syndrome

A

Short females with neck webbing and wide spaced nipples who are infertile
Normal intelligence and lifespan

9
Q

Klinefeler Syndrom

A

Gynaecomastia and are tall with long limbs and small testes with mild learning difficulties

10
Q

Balanced

A

All genetic information still present but just in the wrong place

11
Q

Robertsonian translocation

A

fuse 2 acrocentric chromosomes can lead to downs syndrome

12
Q

Reciprocal translocation

A

Partial monosomy or trisomy

13
Q

Paracentric inversion

A

Not too harmful

14
Q

Pericentric inversion

A

Include centromere

15
Q

Transition point mutation

A

Purine=> purine

Pyrimidine => pyrimidine

16
Q

Transversion point mutation

A

purine<=> pyrimidine

17
Q

PCR requirements

A

Heat tolerant Tac polymerase and polymerase
Sequence information and DNA
Oligonucleotide primers
Nucleotide

18
Q

Name some uses of PCR

A

DNA cloning
In vitro mutagenesis
Forensic medicine
Gene identification for mutations

19
Q

Name the 3 consecutive temperatures for denaturing, annealing and extending the DNA

A

93-95
50-70
70-75

20
Q

Gel electrophoresis

A

Separate compounds on size and density

Apply electric field over agarose gel and negative DNA ==> positive electrode

21
Q

What are some advantages of PCR

A

Fast, easy to use, sensitive and robust

22
Q

ARMS

A

Like PCR but a different primer used to detect single base mutations and deletions

23
Q

In ARMS explain the link between wild type allele and primer

A
Normal = Amplified
Mutant = not amplified
24
Q

In ARMS explain the link between mutant allele and primer

A

Normal primer = no amplification

Mutant primer = amplification

25
Q

Advantages of ARMS

A

Cheap and no label needed

26
Q

State some slight drawbacks of ARMS

A

Electrophoresis also needed and the primer design is critical

27
Q

State the disadvantages of ARMS

A

Need sequence information
Limited amplification size
Limited amounts of product
Infidelity of DNA replication

28
Q

Restriction endonuclease

A

Enzyme used in RFLP from bacterial cell that always cuts DNA at the same sight by recognising specific parts of DNA and degrades DNA of incoming virus
Protective mechanism

29
Q

Explain some positives/negatives of RFLP

A

Simple cheap and non radioactive

When electrophoresis is not always feasible

30
Q

DNA sequencing

A

Precise order of nucleotide

31
Q

ddNTP’s

A

Chain elongating inhibitors of DNA polymerase

32
Q

Some negatives/positives of DNA sequencing

A

Gold standard

Extensive equipment required and has poor quality read ( 70-900) bases

33
Q

What do you base the decision on which mutation detecting method is used?

A

Sensitivity and specifity