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Principles of Disease > Chromosome Abnormalities, Mutations & Analysis > Flashcards

Chromosome Abnormalities, Mutations & Analysis Flashcards

1
Q

Types of Chromosome Abnormalities

A

Numerical
Structural
Mutational

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2
Q

Numerical

A

Trisomy

Monosomy

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3
Q

Trisomy

A

Patau
Edwards
Down
Klinfelter

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4
Q

Patau

A

47 XX +13

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5
Q

Edwards

A

47 XY +18

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6
Q

Down

A

47 XX +21

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7
Q

Klinefelter

A

47 XXY

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8
Q

Monosomy

A

Turner

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9
Q

Turner

A

45 X

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10
Q

Origins of chromosome abnormalities

A

Non-disjunction at meiosis I

Non-disjunction at meiosis II

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11
Q

Non-disjunction at meiosis I

A

2 gametes with disomy

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12
Q

Non-disjunction at meiosis II

A

2 normal gametes and one with disomy

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13
Q

Why are origins of non-disjunction maternal?

A

Females developing ova as developing babies and when they are born they have all their eggs
Arrested at meiosis I
Longer period of arrest = abnormalities

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14
Q

Characteristic of Trisomy 21 (5)

A 
Downs
Distinct facial features
Low IQ
Increases in advanced maternal age
Unbalanced Robertsonian translocation
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15
Q

Characteristic of Trisomy 13 (5)

A 
Patau syndrome
Mental retardation
Dysmorphic features
Maternal origin- non-disjunction
Unbalanced Robertsonian
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16
Q

Characteristic of Trisomy 18 (4)

A

Edwards syndrome
Severe developmental problems
Most patients die within first year
Non-disjunction (maternal)

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17
Q

Characteristic of Aneuploidy (Monosomy) Syndrome

A

Turner syndrome

appear females- short stature and infertile

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18
Q

Characteristic of 47 XXY

A 
Klinefelter syndrome
Tall stature, long limbs
Male but infertile, small testes
Gynaecomastia
Mild learning difficulties
19
Q

Structural

A 
Balanced or unbalanced rearrangements
Translocations
Deletions
Insertions
Inversions
20
Q

Outcomes of Balanced Translocation

A

Normal
Balanced
Partial trisomy + partial monosomy

21
Q

Reciprocal Translocation

A

Involving breaks in 2 chromosomes with formation of two new derivative chromosomes

22
Q

Robertsonian Translocation

A

Fusion of two acrocentric chromosomes

Loss of short arms

23
Q

Outcomes of Robertsonian Translocation

A

Trisomony (chromosome)

Monosomy (chromsome)

24
Q

Deletions

A

Interstitial

Terminal

25
Q

Inversions

A

Paracentric

Pericentric

26
Q

Pericentric

A

Piece involves Centromere

27
Q

Genetic

A

Germ line or Somatic

Non-coding or Coding

28
Q

Coding

A

Silent- codon change, aa stays the same
Missense- amm changes
Nonsense- stop codon
Franeshift

29
Q

Point Mutations

A

Transition

Transversion

30
Q

Transitions

A

Purine to Purine

Pyrimidine to Pyrimidine

31
Q

Transversions

A

Purine to Pyrimidine

Pyrimidine to Purine

32
Q

Cys64Arg

A

• At position 64, mutation from Cys to Arg

33
Q

M252X

A

• Mutation at position 252 to stop codon

34
Q

1294del40

A

Deletion of 40 nucleotides at position 1294

35
Q

1298A>G

A

Position 1298 mutation of A >G

36
Q

662-42C>T

A

Introns use position of exons Position 662 -42 has mutation of C > T

37
Q

IVS2+12insG

A

Position IVS2 + 12 nucleotides has insertion of G

38
Q

Detecting Mutations

A

PCR
Gel electrophiresis
Restriction fragment length polymorphism analysis (RFLP)
Amplification refractory mutation system (ARMS)
DNA sequence

39
Q

PCR

A

Oligonucleotide primers
Denature
Anneal primers and nucleotide
Extend with DNA polymerase

40
Q

Gel Electrophoresis

A

Separate DNA fragments by size
Across electric field
DNA is negatively charged

41
Q

RFLP

A

Enzymes from bacterial cells
Recognise specific DNA sequences (4-8bp)
Cut DNA
Requires gel electrophoresis or southern blot

42
Q

ARMS

A

Normal primer matches= amplification of wild type
Mutant primer = no amplification
Mutant primer attaches= amplification of mutant alleles
Normal primer= no amplification
Electrophoresis required

43
Q

DNA Sequence

A

Uses dideoxynucleotides
ddATP, ddCTP, ddGTP, ddTTP
Gold standard for mutation detection
Uses gel electrophoresis

Principles of Disease (32 decks)

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