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BPT > Genetics > Flashcards

Genetics Flashcards

1
Q

When do chromatids attach to spindle

A

Metaphase

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2
Q

Pyrimidine DNA bases

A

CUT
Cytosine, uracil, thymine

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3
Q

Nucleotide base pairs

A

AT Gold Coast
Adenosine-thymine

Guanine-cytosine

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4
Q

Direction of leading strand DNA replication and transcription

A

5’ to 3’

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5
Q

Features that protect mRNA - convert pre-mRNA to mature mRNA

A

Add Poly A tail
5’ Cap

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6
Q

Function of MiRNA

A

Function post transcription

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7
Q

Type of mutation susceptible to anticipatin

A

Repeat Expansion
- Huntingotn’s - CAG
- Myotonic dystrophy

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8
Q

Duchennes muscular dystrophy - cause of genetic defect

A

Exon deletion

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9
Q

Inheritance of DMD

A

X linked

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10
Q

What stage of cell cycle does base excision repair occur

A

G1

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11
Q

Mismatch repair - genes and proteins pairs involved

A

MutS - MLH1 and PMS2

MutL - MSH2 and MSH6

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12
Q

Homologous repair - what stage of cell cycle can it occur?

A

Has to occur in S or G2 –> needs identical chromatid as template (after replication)

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13
Q

Robertsonian translocation
- What is it?
- Which chromsomes are susceptible

A

Combination of acrocentric chromsomes with short p arms, when they fuse lose their p arms

Chromsomes 13,14,15, 21, 22

Can cause Down, Patau’s etc

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14
Q

Best method to detect balanced chromsome translocations

A

Karyotyping

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15
Q

Karyotyping - when is cell arrested

A

Metaphase using colchicine

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16
Q

Method that picks up copy number variations

A

Comprative genome hybridisation

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17
Q

Method that picks up translocation products (e.g BRC-ABL)

A

FISH

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18
Q

Sanger vs Next generations sequencing

A

Sanger - looks at nucleotide sequence, need to know what you’re targetting

Next generation sequencing - nonselective, targets whole genome, but doesn’t pick up large chromsomal changes

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19
Q

Same gene location, different mutations (allele), same disease

A

Allelic heterogeneity

E.g CF, MEN

20
Q

Different genese, same disease

A

Locus (non-allelic) heterogeneity

E.G retinitis pigemntosum

21
Q

Locus homogeneity = phenotypic heterogeneity

A

Same gene location, different mutations, different diseases

E.G DMD

22
Q

Uneven distribution of allele frequency when forming gametes during meiosis, so unequal frequencies of alleles on gamates

A

Linkage disequilibrium

23
Q

Barr body

A

Randomly selected X chromsome that gets inactivated (lyonisation)

24
Q

Prader willi imprinting

A

Maternal

25
Q

Angelman imprinting

A

Paternal

26
Q

Two alleles expressed independantly in heterozygote

A

Co-dominance

27
Q

X linked adrenoleukodystrophy - most likely sign

A

Peripheral neuropathy

28
Q

Gene for A1 Anti trypsin

A

SERPINA1

29
Q

Most common genotype for A1 antitrypsin

A

Pi*ZZ

30
Q

Genotype in alpha 1 antitrypsin associated with liver/lung disease

A

PI*ZZ

31
Q

Most common cause of familial FTD and MND

A

C90RF72

32
Q

Most common type deletion in DMD

A

Multiple exon deletion

33
Q

Microsatellites are?

A

1-5 nucleotide base pairs repeated multiple times

Often on downregulating promoters. Instability shows characeristic features

As they are repeats, susceptible to frame shift

34
Q

Finding a gene without knowing its function?

A

Positional cloning

35
Q

Copy number variations
- Example of gain
- Example of loss

A

Gain - PMP22 –> Charcot Marie Tooth

Loss - PMP22 –> HNLPP

36
Q

Gold standard for CNV

A

Micro-array

37
Q

Other tests for CNV
- FISH - benefit and drawback
- MLPA - benefit and drawback

A

FISH
- Can find location of gene
- Drawback - need primer

MLPA
- Multiple primers, multiple genes (good for DMD)
- Can’t find location

38
Q

Gold standard for DMD diagnosis

A

MLPA

39
Q

Trinucleotide repeat fragile x

A

CGG

40
Q

Trinucleotide repeat myotonic dystrophy

A

CTG

41
Q

Lamin mutation and CM?

A

DCM

42
Q

Genetic testing for SCA

A

Fragment length analysis

SCA gene loci with varying length of CAG repeats

43
Q

On which base does methylation of DNA occur?

A

Cytosine

44
Q

Detect uniparental disomy?

A

Microarray/CGH

45
Q

Detect loss of heterozygosity?

A

Microarray/CGH

46
Q

Pedigree - unaffected individual but affected parent and child?

A

Autosomal dominant with non-penetrance

47
Q

Is blood brain barrier lipophilic or hydrophilic?

A

Lipophilic

BPT (18 decks)

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