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Year 1 MBChB > Genetics > Flashcards

Genetics Flashcards

1
Q

Male vs female complement?

A

46 XY vs 46 XX

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2
Q

2 meanings of polymorphism?

A

Genetic variation with population frequency >1% or variation that does not cause disease but predisposes it

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3
Q

What is aneuploidy and how the body overcomes it?

A

Whole extra/missing chromosome and X inactivation

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4
Q

Robertsonian translocations are an example of + mechanism + example + what is causes?

A

Unbalanced translocation + a chromosome attaches to the end of another chromosome +21 becomes attached to chromosome 14 in the mother so the baby inherits 3 chromosome 21s + Down’s syndrome (trisomy 21)

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5
Q

Test for small chromosome segment?

A

PCR

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6
Q

First line test for unbalanced chromosome segment?

A

aCGH

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7
Q

Test for breast cancer + how it works?

A

HER2 FISH + DNA probe with fluorescent stain attaches to target chromosome

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8
Q

Central dogma?

A

Transcription + translation

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9
Q

Penetrance?

A

Chance you get the disease if you have the gene

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10
Q

Mendelian inheritance?

A

Disease with high penetrance passed through family lines

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11
Q

CD-CV hypothesis?

A

Common disease-causing alleles will be found in all human populations

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12
Q

C. = ?

A

Effect on base sequence

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13
Q

P. = ?

A

Effect on amino acid sequence

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14
Q

+2T> A?

A

T changes to A 2 bases into intron

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15
Q

Ter or * in nomenclature?

A

Premature stop codon

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16
Q

Fs in nomenclature?

A

Frameshift

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17
Q

Trisomy 21?

A

Down’s syndrome

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18
Q

Trisomy 18?

A

Edwards syndrome

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19
Q

Maternal deletion on chromosome 15?

A

Angelman syndrome

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20
Q

Paternal deletion on chromosome 15?

A

Prader-Willi syndrome

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21
Q

Turner’s syndrome complement?

A

45 X

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22
Q

Klinefelter’s syndrome complement?

A

47 XXY

23
Q

Key point about genetic testing with aCGH?

A

Only detects imbalance/ does not detect rearrangements

24
Q

Explain mosaicism?

A

Cells in the body having different small mutations in them

25
Q

Test for looking at the whole set of chromosomes?

A

Karyotyping

26
Q

Test for sequencing a whole genome + advantage + diasadvanatge?

A

NGS + cheap + any detected abnormality could be disease causing OR just a polymorphism

27
Q

How the disadvantage of NGS is overcome?

A

Filtering - excludes if known polymorphism

28
Q

Chromosome that is affected by deletions that causes DiGeorge syndrome?

A

22

29
Q

Disease with 100% penetrance?

A

Huntington’s disease

30
Q

Why is every copy of the genome different?

A

Crossing over during meiosis

31
Q

What disease is Philadelphia chromosome 22 seen in + treatment?

A

Leukaemia + tyrosine kinase inhibitor (imatinib)

32
Q

Driver mutation vs passenger?

A

Drives cancer development vs random mutation along the way

33
Q

What base does methylation occur on + what it does + risk factor?

A

C before a G + prevents DNA from being unwound + C mutation to T

34
Q

1st and 2nd biggest risk factor for cancer?

A

Smoking (1st) and obesity (2nd)

35
Q

High salt intake is linked to which cancer?

A

Gastric

36
Q

What % of breast cancer is due to faulty genes?

A

3%

37
Q

Can breast feeding reduce breast cancer?

A

Yes

38
Q

Beta-carotene (vitamin supplements) ….. risk of cancer?

A

Increases

39
Q

Do dairy products increase risk of cancer?

A

No

40
Q

2 supplements to recommend + why?

A

Vitamin D (kids and low sun exposure) and folic acid (pregnancy)

41
Q

The carcinogen acrylamide is found in which 3 substances?

A

Coffee, burnt bread and potatoes (crisps,chips etc.)

42
Q

Coffee prevent which 2 types of cancer?

A

Liver and endometrial

43
Q

What are monosomy and trisomy examples of?

A

Aneuploidy

44
Q

Most important feature of a test that is being used for cancer screening?

A

Sensitivity

45
Q

Abnormalities in MMRPs can be detected by what?

A

Micro-satellite instability (MIR)

46
Q

What type of mutation is most likely to activate an oncogene?

A

Missence

47
Q

Most cells are in which cell cycle stage?

A

G0

48
Q

p53 checks and can arrest the DNA at which 2 checkpoints?

A

G1/S and G2/M

49
Q

Variation in meiosis occurs by which 2 mechanisms?

A

Crossing over and independent assortment of chromosomes

50
Q

In meiosis, a diploid cell becomes what?

A

4 haploid daughter cells

51
Q

Most common type of genetic variation?

A

Single nucleotide polymorphism (SNP)

52
Q

What is epigenetic variation?

A

Changes to the expression of genes without changing the DNA sequence

53
Q

Most common inheritance of cancer?

A

Multifactorial

Year 1 MBChB (10 decks)

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