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Principles of Disease > Genetics > Flashcards

Genetics Flashcards

1
Q

What is the phenotype?

A

Physical manifestation of genes.

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2
Q

What is the genotype?

A

Full genetics of genes.

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3
Q

What is DNA composed from?

A

Nucleotide monomers.

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4
Q

What is a nucleotide composed from?

A

Nitrogenous base
Phosphate group
Sugar

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5
Q

What does the double helix shape result in?

A

Major and minor grooves.

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6
Q

Why are major grooves in the double helix important?

A

Binding sites for proteins.

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7
Q

What are the complementary base pairs of DNA?

A

Cytosine and Guanine

Thymine and adenine

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8
Q

What does uracil pair with in mRNA?

A

Adenine.

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9
Q

What is the sugar-phosphate backbone of DNA composed of?

A

Deoxyribose sugar and phosphate group link at 3’-5’ ends.

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10
Q

What does the nucleus contain?

A

Genetic information.

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11
Q

What occurs in the nucleus?

A

DNA replication

First steps of transcription

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12
Q

What is chromatin?

A

Chromatin is the name given to the mixture of DNA, proteins and RNA that package DNA within the nucleus.

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13
Q

What are heterochromatin and and euchromatin?

A

The condensed and extended forms of chromatin in the nucleus.

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14
Q

What processes require the 2 strands of DNA to separate temporarily to allow enzymes access to the DNA template?

A

DNA replication

Transcription

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15
Q

What poses a barrier to enzymes during DNA replication/transcription?

A

Nucleosomes and folding of chromatin barriers.

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16
Q

How can chromatin be made more accessible?

A

Histones are enzymatically modified

Histones are displaced by chromatin remodelling complexes

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17
Q

What is DNA replication semi-conservative?

A

One half of DNA is new and one is old.

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18
Q

In what direction is DNA replicated?

A

5’ to 3’.

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19
Q

What enzyme adds nucleotides in DNA replication?

A

DNA polymerase.

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20
Q

Why is DNA replicated in a 5’-3’ direction?

A

DNA polymerase can only add it in that direction.

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21
Q

When are chromosomes most compacted and visible?

A

Metaphase.

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22
Q

What are coding regions called?

A

Exons.

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23
Q

What are non-coding regions called?

A

Introns.

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24
Q

How does genetic code allow DNA sequences to code for proteins?

A

Sets of 3 form codons which code for amino acids?

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25
Q

What codes for the amino acid?

A

Codon.

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26
Q

What is degeneracy/redundancy of genetic code?

A

The fact that most proteins are coded for by more than one codon.

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27
Q

What is the role of RNA?

A

To transport DNA from nucleus to cytoplasm for ribosome travel for protein synthesis.

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28
Q

What is mRNA transcribed from?

A

DNA.

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29
Q

What happens during alternative DNA splicing?

A

Exon coding regions are reconnected in a different way to increase variation and allow generation of more protein functions.

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30
Q

What is the role of tRNA?

A

To translate the mRNA sequence into an amino acid sequence.

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31
Q

What does tRNA act as?

A

Adaptor molecule.

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32
Q

What is rRNA?

A

Component of ribosomes

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33
Q

Where does rRNA combine with proteins to form a ribosome?

A

Cytoplasm.

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34
Q

What is it called when several ribosomes can translate DNA at one time?

A

Polysome.

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35
Q

What are telomeres?

A

5’-3’ repeats.

36
Q

What are the stages of mitosis?

A

Prophase
Metaphase
Anaphase
Telophase

37
Q

What happens in prophase?

A

Chromosomes condense.

38
Q

What happens in metaphase?

A

Chromosomes line up at the equator of the cell.

39
Q

What happens in anaphase?

A

Spindle fibres form, move to opposite ends of the cell.

40
Q

What happens in telophase?

A

New nuclear membranes form.

41
Q

What is cytokinesis?

A

Division to form 2 daughter cells.

42
Q

At what stage are chromosomes most condensed?

A

Metaphase.

43
Q

What does mitosis produce?

A

Diploid cells with 46 chromosomes.

44
Q

What are centromeres?

A

Constricted region joining sister chromatids.

45
Q

When does DNA replication occur?

A

Interphase- S phase.

46
Q

What enzymes does DNA replication require?

A

Helicase
DNA polymerase
Ligase
Primase

47
Q

Where does DNA replication occur?

A

Nucleus.

48
Q

What does helicase do?

A

Unwinds DNA from origin point by breaking hydrogen bonds.

49
Q

What does primase do?

A

Makes RNA primers on both strands which shows DNA polymerase where to start.

50
Q

What direction does DNA polymerase add in?

A

5’-3’.

51
Q

Why does DNA polymerase add in the 5’-3’ direction?

A

Moves along old template in 3’-5’ direction.

52
Q

What is the lagging strand?

A

The new strand.

53
Q

What are primer fragments called and joined by?

A

Okazaki fragments sealed by ligase.

54
Q

Why is DNA replication semi-conservative?

A

Because 2 copies of each contains 2 strands and one is old with the other being new.

55
Q

What structure does heterochromatin have?

A

Condensed structure, silenced genes.

56
Q

What structure does euchromatin have?

A

Open structure, active genes.

57
Q

Are genes silenced or active in heterochromatin?

A

Silenced.

58
Q

Are genes silenced or active in euchromatin?

A

Active.

59
Q

What is DNA packaged with to form chromatin?

A

Histone proteins.

60
Q

What charge do histone proteins have?

A

Positive.

61
Q

What are DNA/chromatin/histone complexes packaged into?

A

Nucleosomes.

62
Q

What is the karyotype?

A

Chromosome structure arrangement.

63
Q

What happens in transcription?

A

RNA polymerase binds to DNA promoter region and creates template strand- it uses this to synthesis mRNA from 5’-3’ end through elongation.

64
Q

What is elongation?

A

Synthesis of mRNA from 5’-3’ end.

65
Q

What direction does RNA polymerase synthesis mRNA?

A

5’-3’ end.

66
Q

What are the differences between RNA and DNA?

A

RNA is single stranded
Ribose sugar instead of deoxyribose
Uracil base instead of thymine

67
Q

What happens when mRNA is produced?

A

Moves to ribosome for translation.

68
Q

What does mRNA act as?

A

Specific code for proteins.

69
Q

How does mRNA act as a code?

A

3-base codons pair with anti-codons on tRNA which are linked to amino acids.

70
Q

What does tRNA do?

A

Links mRNA to amino acids.

71
Q

What is rRNA?

A

Ribosomal RNA.

72
Q

What are FISH probes?

A

Fluorescent in situ hybridisation probes.

73
Q

What are the types of FISH probe?

A

Centromeric (number)
Telomeric (kids with mental retardation)
Whole chromosome

74
Q

What are centromeric FISH probes used for?

A

Determining chromosome number.

75
Q

What are telomeric FISH probes used for?

A

Subtelomeric arrangement- kids with unexplained mental retardation.

76
Q

What are whole chromosome FISH probes used for?

A

Translocation and rearrangement.

77
Q

What is meiosis?

A

Cell division in germline cells.

78
Q

What does meiosis produce?

A

Haploid cells from diploid cells.

79
Q

How is genetic diversity promoted within meiosis?

A

Recombination.

80
Q

When does recombination occur in meiosis?

A

Prophase I

81
Q

What is oogenesis?

A

Process of egg formation.

82
Q

What is spermatogenesis?

A

Process of sperm formation.

83
Q

Why is there more chance of mutation in sperm?

A

Increase division.

84
Q

Where do mitochondrial genes come from?

A

Maternal origin.

85
Q

What is X-inactivation?

A

Due to double XX genotype in mother, one X chromosome may be deactivated and just the other passed on.

Principles of Disease (22 decks)

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