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Y1 Principles > Genetics > Flashcards

Genetics Flashcards

1
Q

In what direction is DNA replicated?

A

5’ to 3’

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2
Q

What does the 5’ indicate?

A

the carbon number that the bond is attached to

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3
Q

Which DNA bonds are strongest?

A

C-G

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4
Q

What is the most common DNA mutation?

A

C-T

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5
Q

How is DNA kept?

A

tightly wound round proteins such as histones and condensed in the nucleus

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6
Q

how many bases are there in the human genome?

A

3 billion

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7
Q

How many genes are there in the human genome?

A

30,000

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8
Q

What are the 5 phases to the cell cycle?

A 
G0 - resting phase
S - synthesis for replication
G2 - checkpoint for mitosis
Mitosis
G1 - final check point for new cell
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9
Q

What are the implications of DNA damage and repair mechanisms?

A

DNA repair mechanisms can be damaged thus preventing them from occurring

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10
Q

what is mitosis?

A

the splitting of one cell into almost identical daughter cells which are diploid

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11
Q

What is meiosis?

A

the splitting of a parent cell into 4 haploid cells and contains two episodes of cell division.
crossing over and DNA recombination occurs
DNA errors more likely to occur

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12
Q

what does splicing involve?

A

the removal of introns

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13
Q

How is splicing initiated?

A

through gene sequence motifs that indicate a need for splicing or insertions

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14
Q

What is the process of protein production?

A

DNA - premRNA (spliced) - mRNA - protein

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15
Q

What can cause variations in the human genome?

A

changes in promoter sequence
changes in exon sequence
SNP
Larger deletions or duplications

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16
Q

What is a polymorphism?

A

a variation that has a population frequency of >1% and does not cause disease - may still pre-dispose to a disease

17
Q

What is a mutation?

A

a gene that causes a genetic disorder

18
Q

What is FGFR3?

A

an achondraplasia mutation that causes a form of dwarfism - one or two mutations cause it

19
Q

Why is FGFR3 achondraplasia relatively common?

A

because spermatids that have this mutation have a selective advantage over normal spermatids

20
Q

What are the short arm and long arms of chromosomes also referred to as?

A

short (p)

long (q)

21
Q

What are acrocentric chromosomes?

A

chromosomes where the short arm does not exist but is not typically required i.e. 21

22
Q

what is a balanced chromosome rearrangement?

A

when all chromosome material is present

23
Q

What is an unbalanced chromosome rearrangement?

A

where extra or missing chromosome material is present i.e. 1 or 3 copies

24
Q

what is aneuploidy?

A

having a whole extra or missing chromosome

25
Q

What is translocation?

A

rearrangement of chromosomes

26
Q

what are microdeletions?

A

deletions that cant be seen in a microscope - need to be 5m bp to be seen

27
Q

What is the likely cause of Downs Syndrome?

A

extra 21 sneaking into the egg

28
Q

what are the likely changes from maternal and paternal transmission?

A

maternal is more likely to be chromosomal

paternal is more likely to be gene changes

29
Q

what is a robertsonian translocation?

A

where two acrocentric chromosomes are passed on through translocation i.e. mother has one normal 21 and a 21 attached to 14 therefore child gets normal from mother and father and extra from mum

30
Q

What occurs with trisomy 18?

A

Edward Syndrome

31
Q

What is the notation for Turners syndrom?

A

45X

32
Q

What is the notation for Triple X?

A

47 XXX

33
Q

What is the notation for Klinefelter syndrome?

A

47 XXY

34
Q

why is having one X ok?

A

because one X is only ever active in cells

35
Q

Why are bigger translocations better?

A

Child will either have normal or balanced chromosomes - although potential risk for reproduction

36
Q

What does the FISH technique allow?

A

the staining of protein or gene in a cell to see if production is normal, heightened or lessened i.e. HER2 gene

37
Q

What is somatic mosaicism?

A

where all cells suffer mutations but those mutations are variable throughout the body

38
Q

What is next generation sequencing?

A

DNA with exons cut out and compared to a reference frame

39
Q

What is an SNP?

A

a genetic variation that is prevalent in the population and not, in itself, disease causing

Y1 Principles (10 decks)

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