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RM Principles > Genetics > Flashcards

Genetics Flashcards

1
Q

How are the strands of DNA lined up?

A

Anti-parallel

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2
Q

In what direction is DNA transcribed and read?

A

5’ to 3’

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3
Q

Which base pair bond is strongest and why?

A

C to G because it has 3 bonds, whereas A to T has 2

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4
Q

During which stages of the cell cycle is a cell able to carry out its normal function?

A

G0 and Synthesis

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5
Q

What two things do all DNA sequences have?

A

Promotor and stop sequence

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6
Q

What is the majority of a gene sequence made up of?

A

Exons and Introns

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7
Q

What are exons?

A

Coding parts of DNA

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8
Q

What are introns?

A

Non-coding parts of DNA

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9
Q

What are the three stages of turning a genome into a protein and what happens at each?

A

Transcription - genome is copied
Splicing - transcribed strand is tidied up - leaving only exons
Translation - made into a protein

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10
Q

What 4 factors determine the amount of protein produced by transcription, splicing and translation?

A

The rate of transcription
Rate of splicing to mRNA
Half-life of mRNA
Rate of processing of polypeptide

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11
Q

What is a polymorphism?

A

A variation in the human genome that does not cause a disease in its own right, but may however predispose to a common disease

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12
Q

What is a mutation?

A

A gene change that causes a genetic disorder

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13
Q

What factor increases the number of inherited mutations?

A

Paternal Age

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14
Q

Why are all the inherited mutations very spread apart?

A

Due to crossing over at chiasmata during meiosis

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15
Q

What is the normal karyotype for a healthy female?

A

46 XX

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16
Q

What are the three features by chromosomes can be recognised?

A

Its banding pattern with specific stains
Length
Position of centromere

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17
Q

What are acrocentric chromosomes?

A

The short arm of the chromosome does not matter, and is instead replaced with a ‘satellite’

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18
Q

What does the satellite of a chromosome contain?

A

Ribsomal genes and tRNA

19
Q

What is balanced chromosomal rearrangement?

A

When all the chromosomal material is still present, so the karyotype will still be 46XX

20
Q

What is unbalanced chromosomal rearrangement?

A

When there is extra or missing chromosomal material, so the patient’s karyotype will change.

21
Q

What is the common example of chromosomal rearrangement?

A

1 or 3 copies of a chromosome

22
Q

What is aneuploidy?

A

The term used to describe a whole extra or missing chromosome

23
Q

What is translocation?

A

The rearrangement of chromosomes

24
Q

What are microdeletions?

A

Any changes to the chromosome that are too small to see down the microscope

25
Q

What is the smallest number of bases that can be viewed under a microscope?

A

5 million bases

26
Q

What is the chromosomal term for down syndrome?

A

Trisomy 21

27
Q

What is the chromosomal description for downs syndrome?

A

47 XX + 21

28
Q

Why is it sometimes difficult to see any extra chromosome in the karyotype?

A

It can be stuck on top of another chromosome

29
Q

What is a Robertsonian Translocation?

A

The pairing of two acrocentric chromosomes

30
Q

What condition has the karyotype 47 XY +18

A

Edward syndrome

31
Q

What is the prognosis of Edwards syndrome?

A

Child dies within days of birth

32
Q

What is the condition that has the karyotype 45X?

A

Turner Syndrome

33
Q

What is the condition that has the karyotype 47 XXY?

A

Klinefelter Syndrome

34
Q

What conditions are associated with Klinefelter syndrome?

A

Both male and female charateristics

35
Q

Why is X chromosome aneuploidy better tolerated than any other aneuploidy?

A

Due to X inactivation

36
Q

What is reciprocal translocation?

A

Where the ends of chromosomes swap

37
Q

What is the consequence of reciprocal translocation?

A

Miscarriage or severe disability

38
Q

What can FISH be used for?

A

Looking at genes on a chromosome

39
Q

What test is genome wide?

A

Array Comparative Genomic Hybridisation (aCGH)

40
Q

What test can be used to look at specific loci or chromosomes?

A

Quantitative PCR

41
Q

What kind of things can Array CGH find?

A

Polymorphisms

42
Q

What kind of things can microarray CGH find?

A

Missing or duplicated pieces of chromosome (i.e. any microdeletions)

43
Q

What is Mosaicism?

A

The presence of two or more populations of cells with different genotypes in a individual who developed from a single fertilised egg

RM Principles (5 decks)

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