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Principles > Genetics > Flashcards

Genetics Flashcards

1
Q

What 2 factors add together to produce disease?

A
  • environment

- genes

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2
Q

Explain DNA structure

A
  • double stranded
  • anti-paralel
  • deoxyribose sugar
  • A-T , C-G
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3
Q

What is the name of the protein DNA wraps around to produce chromosomes?

A
  • histone
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4
Q

How many bonds between cystosine and guanine?

A
  • 3
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5
Q

How many bonds between adenine and thymine?

A
  • 2
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6
Q

Which direction is DNA read and replicated?

A
  • 5’ –> 3’
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7
Q

What are the steps of the cell cycle?

A
  • G1
  • S
  • G2
  • M
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8
Q

At which stage in the cell cycle does DNA synthesis occur?

A
  • S phase
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9
Q

What is mitosis?

A
  • 1 diploid parent produces 2 identical diploid cells
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10
Q

What is meiosis?

A
  • 1 diploid parent produces 4 haploid cells
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11
Q

what occurs during meiosis?

A
  • crossing over

- gamete production

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12
Q

What is the differences in RNA compared to DNA

A

RNA:

  • single stranded
  • ribose sugar
  • uracil replaces thymine
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13
Q

Explain the processes from DNA to protein

A
  • DNA transcribed to pre mRNA
  • pre mRNA spliced to mRNA
  • mRNA translated to protein
  • protein modified and moved around cell
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14
Q

What is the definiton of a polymorphism?

A
  • any variation in the human genome with a population frequency of greater than 1%
  • doesnt cause disease in own right, but can predispose
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15
Q

What is the definition of a mutation?

A
  • a gene change that causes a genetic disorder
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16
Q

What causes variations within genes?

A
  • changes in promotor sequences

- changes in exon sequences

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17
Q

How are chromosomes recognised?

A
  • banding patterns
  • length
  • position of the centromere
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18
Q

What is the name given to a chromosome where the short arm doesnt really matter?

A
  • acrocentric
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19
Q

Define balanced chromosomal arrangement

A
  • all chromosomal material is present
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20
Q

Define unbalanced chromosomal arrangement

A
  • extra or missing chromosomal material
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21
Q

Define anueploidy

A
  • whole extra or missing chromosome
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22
Q

Define transloaction

A
  • rearrangement of chromosomal material
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23
Q

Down syndrome genetic makeup?

A
  • trisomy 21

- 47XY + 21

24
Q

What is a robertsonian translocation?

A
  • two afrocentric chromosomes stuck end-to-end
25
Q

Turners syndrome genetic make up?

A

45 X

26
Q

Edwards syndrome genetic make up

A

47 XY + 18

- trisomy 18

27
Q

Klinefeleter syndrome genetic make up

A

47 XXY

28
Q

What is the 1st line chromosome test?

A
  • microarray CGH (aCGH)
29
Q

what is a disadvantage of aCGH?

A
  • Doesn’t detect balance rearrangements
30
Q

Define mosaicism

A
  • different cells have different genetic constitution
31
Q

What 2 chromosomal abnormalities may cause cancer?

A
  • activation of oncogenes

- deletion of tumour suppressor genes

32
Q

What are the functions of introns?

A
  • non-coding regions
  • regulation of genes
  • spacing out of genes
33
Q

What is a mutation?

A
  • a genetic variation that causes disease
34
Q

What is a polymorphism?

A
  • a genetic variation that may not cause disease in its own right
35
Q

What is a point mutation?

A
  • a single nucleotide base is changed, inserted or deleted
36
Q

What does “>” represent on the c.

A
  • substitution
37
Q

What does “c.” represent when describing mutations?

A
  • change to the mature mRNA
38
Q

What does “p.” represent when describing mutations?

A
  • change to the peptide (protein) sequence
39
Q

What does “wild type” mean?

A
  • the “normal”
40
Q

Define penetrance

A
  • the likelihood of having a disease if you have the gene mutation
  • 100% penetrance = 100% you will have the disease
41
Q

Define mendelian disorders?

A
  • caused by a change in a single gene
42
Q

What are examples of non-mendelian disorders?

A
  • methylation/imprinting
  • mitochondrial inheritance
  • mosaicism
43
Q

autosomal dominant mutations are seen in ____ generation(s)

A
  • all generations
44
Q

If a parent is affected with an autosomal dominant mutation, what is the risk that a child will also be infected?

A
  • 50% risk of child being infected
45
Q

Autosomal recessive mutations require ___ copies of the gene to cause disease

A
  • 2 copies
46
Q

In autosomal recessive mutations usually ____ generation(s) are affected.

A
  • one generation
47
Q

What is the risk of a child being affected if both parents are a carrier of an an autosomal recessive mutation?

A
  • 25% risk
48
Q

Explain X linked recessive diseases?

A
  • gene fault lies on the X chromosome
  • female may be carrier but will show no sign of disease (except if X inactivated)
  • 1/2 of male children effected
  • 1/2 of female children carriers
49
Q

If an affected male, with X linked recessive mutation has 2 children, boy and a girl. What are their individual risks?

A
  • Male - 0% (no male-to-male transmission)

- all of female children will be affected

50
Q

What are SNPs?

A
  • Single Nucleotide Polymorphism

- most have no/little effect

51
Q

Cancers can be described as genetic disease at a ____ level

A
  • somatic
52
Q

Methylation usually occurs on the ___ bases just before the ____ bases

A
  • cytosine

- guanine

53
Q

What are oncogenes activated by?

A
  • point mutations
  • translocations
  • gene amplifications
54
Q

Name an example of an oncogene?

A
  • RAS

- MYC

55
Q

Tumour supressor mutations are ___

dominant or recessive?

A
  • recessive
56
Q

Examples of tumour supressors?

A
  • pRb

- p53

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