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SK299 > Topic 1 - Human Variation & Diversity > Flashcards

Topic 1 - Human Variation & Diversity Flashcards

1
Q

What is biological determinism?

A

The view that every characteristic of an organism’s functioning is determined by the genes it has inherited

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2
Q

What is the definition of the human genome?

A

The total genetic material within a cell

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3
Q

What is human genomics?

A

The combined application of medical technologies and genetics to diagnose, prevent and treat disease

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4
Q

What is a genotype?

A

The entire complement of genes of an individual, or the specific alleles of a single gene

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5
Q

What is an allele?

A

A known variation of a particular gene. Every individual carries two alleles of each gene, one from each parent

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6
Q

What is a phenotype?

A

The characteristics of an individual (be it anatomical, physiological or biochemical) which are determined by both genetic and environmental factors

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7
Q

What is the definition of a recessive disorder?

A

A disease in which two copies of a defective gene must be inherited in order for the disease to be expressed

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8
Q

In 2014, how many people did the WHO estimate to be overweight?

A

More than 1.9 billion adults (600 million of which were obese) and 41 million children

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9
Q

What problems can excessive visceral fat cause?

A

Increases the risk of diabetes, heart attacks and strokes

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10
Q

What is the thrifty genotype hypothesis?

A

A hypothesis which suggests that members of certain human populations have a genotype which promotes fat storage, predisposing them to obesity and type 2 diabetes when eating high-energy diets

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11
Q

What is the formula we can use to understand phenotypes?

A

Genotype + environment = phenotype

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12
Q

In 2015, what were the three leading causes of deaths in high-income countries?

A
  • Ischaemic heart disease
  • Stroke
  • Alzheimer’s disease/other dementias
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13
Q

What is a single nucleotide polymorphism?

A

A variation in a genetic sequence which only affects one of the basic blocks (A, C, G, T) in a segment of a DNA molecule, and that occurs in more than 1% of the population

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14
Q

How much of the DNA sequence is the same for every human?

A

99.9%

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15
Q

What are mRNA codons?

A

A 3 base pair long part of the mRNA which codes for a specific amino acid in the ribosomes of a cell

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16
Q

What do amino acids create?

A

Proteins

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17
Q

What is a characteristic of a dominant genetic disorder?

A

That there is at least one affected individual in every generation

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18
Q

What is a characteristic of a recessive genetic disorder?

A

It often misses generations within a family pedigree

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19
Q

Is the DNA molecule stable or fragile?

A

Very stable

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20
Q

What are DNA base triplets called?

A

Codons

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21
Q

What does mRNA do?

A

Acts as an intermediary in the conversion of DNA codons into amino acids

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22
Q

In the human genome, roughly how many genes code for proteins?

A

25,000

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23
Q

What are the three properties of DNA?

A
  • It is relatively stable
  • Its structure is easily duplicated or replicated
  • It carries a store of vital information which is used in the cell to produce proteins
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24
Q

What are the building blocks that each strand of DNA is made from?

A

Nucleotides

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25
Q

What is a nucleotide?

A

A building block of DNA consisting of 3 parts:

  • Phosphate
  • A sugar (ribose/deoxyribose)
  • A base
26
Q

What is a base?

A

One of the 3 components of a nucleotide

27
Q

What are the four bases in DNA?

A
  • Adenine
  • Cytosine
  • Guanine
  • Thymine
28
Q

In RNA, what is the base thymine replaced with?

A

Uracil

29
Q

In each strand of DNA, how are the components joined to each other?

A

The phosphate of one nucleotide is joined to the sugar of another nucleotide

30
Q

Is DNA found in plants or animals?

A

Both

31
Q

What are the rules for base pairing in DNA?

A
  • T pairs only with A

* C pairs only with G

32
Q

What are the pairs of bases in DNA known as?

A

Complementary base pairs

33
Q

What does “complementary base pair” actually mean in real-world terms?

A

The order of the bases on one strand of DNA is complementary to the order of bases on the second strand of DNA

34
Q

What is DNA polymerase?

A

An enzyme which catalises the synthesis of DNA molecules

35
Q

What is meant by semi-conservative (DNA) replication?

A

In each new DNA double helix, one of the two original strands is conserved (unchanged) from the original parent molecule

36
Q

Roughly how many base pairs of DNA does each human cell contain?

A

3 000 000 000 (billion)

37
Q

What are the functions of proteins?

A
  • Contractility, eg muscles
  • Shape or structure of individual cells
  • Messengers - released from one part of the body and affecting the activity of cells in another part of the body
  • Receptors - detecting those messages
  • Catalysts - enzymes, which speed up chemical reactions
38
Q

What are amino acids?

A

Building blocks of polypeptides and proteins

39
Q

How many naturally occurring amino acids are there?

A

20

40
Q

What do all amino acids consist of?

A

An amine group and a carboxyl group, both attached to a central atom

41
Q

What is a peptide?

A

Short strings of amino acids

42
Q

What are polypeptides?

A

A single chain of many amino acids joined together

43
Q

What is the primary structure of a protein?

A

A protein is a linear sequence of amino acids

44
Q

What is the one gene-one protein hypothesis?

A

The hypothesis that each gene codes for a specific protein

45
Q

What is the difference between RNA and DNA?

A

RNA is single-stranded
The individual RNA nucleotides contain ribose sugar instead of deoxyribose sugar
Thymine is replaced with Uracil

46
Q

What is DNA transcription?

A

The synthesis of an RNA molecule using DNA as the template

47
Q

What is DNA translation?

A

The process of translating the sequence of a messenger RNA (mRNA) molecule to a sequence of amino acids during protein synthesis

48
Q

What is RNA in regards to the process of DNA transcription?

A

An intermediary in the flow of information from DNA to protein

49
Q

What are RNA’s four bases?

A
  • Adenine
  • Guanine
  • Cytosine
  • Uracil
50
Q

What is mRNA (messenger RNA)?

A

A single-stranded molecule of RNA which is produced by the transcription of DNA

51
Q

What information does mRNA carry?

A

The code for the amino acid sequence of a particular protein

52
Q

What is tRNA (transfer RNA)?

A

Small RNA molecules which are involved in protein synthesis, each carrying a particular amino acid

53
Q

What is an anticodon?

A

A triplet of bases in tRNA which plays an important role in the translation of mRNA at the ribosome and the synthesis of the primary structure of protein

54
Q

What is a codon?

A

A triplet of mRNA nucleotides whcih correspond to a specific amino acid, or stop signal in the genetic code

55
Q

What is the function of codons in a protein-coding mRNA molecule?

A

To determine the amino acid sequence of the polypeptide

56
Q

What is an anticodon composed of?

A

Three bases which correspond to a complementary codon in mRNA which codes for a specific amino acid

57
Q

What is the sequence of events in (DNA) translation?

A

mRNA -> tRNA + amino acid -> protein

58
Q

Where is mRNA made?

A

In the cell nucleus

59
Q

Where does (DNA) translation occur?

A

Outside of the nucleus on ribosomes

60
Q

What are ribosomes?

A

Particles composed of RNA and protein

61
Q

What is the function of ribosomes?

A

They are the sites of protein synthesis in the cell

62
Q

What structure in a cell are ribosomes usually attached to?

A

The endoplasmic reticulum

SK299 (15 decks)

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