Genes Flashcards

1
Q

Genotype =

A

the alleles present at a given locus

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2
Q

Autosome =

A

Chromosomes that aren’t the sex chromosomes

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3
Q

Gene =

A

A sequence of nucleic acids that contribute to the phenotype

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4
Q

Loci =

A

A location on the chromosome

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5
Q

Phenotype =

A

The observable characteristics as a result of the genotype

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6
Q

What is the Central Dogma? And who named it?

A

An explanation of the flow of genetic information in a biological system
DNA —-> RNA —-> Protein
Named by Francis Crick

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7
Q

G x E =

A

genetic x environmental interaction = effects the phenotype

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8
Q

Pleiotropy =

A

one gene influences two or more seemingly unrelated phenotypic traits

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9
Q

Polygenic traits =

A

a trait effected by many genes e.g. height

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10
Q

Processes that don’t fit the central dogma like epigenetic inheritance, don’t fit because…

A

DNA is still the ‘information’ source but the process is not sequence dependant

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11
Q

sources of change to the genotype:

A
  1. mutations

2. recombination of alleles during meiosis

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12
Q

three types of changes to the DNA sequence:

A
  1. Base pair substitutions
  2. Duplication
  3. Deletion
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13
Q

Base pair substitutions:

transitions =

A

a change of base; either purine to purine or pyrimidine to pyrimidine

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14
Q

Base pair substitutions:

transversions =

A

a change in base; either purine to pyrimidine to purine or purine to pyrimidine

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15
Q

Purine bases =

A

guanine and adenine

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16
Q

Pyrimidine bases =

A

cytosine and thymine

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17
Q

duplication =

A

when a base is accidentally duplicated e.g:

CTACG ——> CTAACG

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18
Q

deletion =

A

when a base is accidentally deleted e.g:

CTGACG ———> CTG_CG

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19
Q

which can be inherited: mutations in the somatic cells or the germline cells?

A

Only in the germline cells, somatic mutations cannot be passed down

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20
Q

Inversion =

A

orders of genes at a locus have been swapped with each other

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21
Q

Translocation =

A

When the end of a chromosome has been copied and pasted onto the end of another, resulting in varying lengths of chromosome pairs

22
Q

Errors of chromosomal dose can cause…

A

Conditions such as Down syndrome (trisomy of chromosome 21 occurs as non-disjunction happens during cell division)

23
Q

females have 2 X chromosomes and males have 1, to equalise the X dose between males and females, what happens?

A

In females, 1 X chromosome is randomly silenced or inactivated

24
Q

females are said to be mosaic for inactivated X chromosomes, what does this mean?

A

In different cells in the body, a different X chromosome may be silenced.

25
Q

Even though there are more possible transversions than transitions, transitions are more likely to occur, why is this?

A

substituting a single ring for another single ring or a double ring to another double ring is more likely than substituting single for double or vice versa.

26
Q

synonymous mutations =

A

when the base change doesn’t change the amino acid coded for

27
Q

non-synonymous mutations =

A

when the base change does change the amino acid coded for

28
Q

frame shift mutations =

A

a bases insertion or deletion causes a frameshift and therefore a change in the amino acids coded for.

29
Q
Mitosis or Meiosis?
•Ploidy halved
•Produces 4 cells
•Homologous chromosomes pair
•Recombination between homologues
A

Meiosis

30
Q
Mitosis or Meiosis?
•Ploidy maintained
•Produces 2 cells
•Homologues don’t pair
•No recombination
A

Mitosis

31
Q

Ploidy =

A

Ploidy is the number of complete sets of chromosomes in a cell

32
Q

Order of mitosis:

Hint: I Prefer Milk And Tea

A
  1. Interphase
  2. Prophase
  3. Metaphase
  4. Anaphase
  5. Telophase and cytokinesis
33
Q

Order of meiosis?

Hint: I Prefer Milk And Tea x2

A
  1. Interphase 1 6. Interphase 2
  2. Prophase 1 7. Prophase 2
  3. Metaphase 1 8. Metaphase 2
  4. Anaphase 1 9. Anaphase 2
  5. Telophase1+cytokinesis 10. Telophase2+cytokinesis
34
Q

Mitosis or meiosis?

2n -> 4n -> 2n

A

Mitosis

35
Q

Mitosis or Meiosis?

2n -> 4n -> 2n -> n

A

Meiosis

36
Q

Genetic consequences of meiosis =

A
  1. Parental chromosomes are changed
  2. Different combinations of alleles
  3. Unique mixture of recombined chromosomes
  4. After fertilisation, new pairings of chromosomes
37
Q

Recombination is:

  1. More likely between physically________ positions
  2. Very unlikely between very_________ positions
  3. Less likely at chromosome__________.
A

Far
Close
Ends

38
Q

Asexual reproduction: Agametic =

A
  • Budding or fission

* Offspring are genetically identical to the parents

39
Q

Asexual reproduction: Parthenogenesis =

A
  • Gametes produced by mitosis or a modified meiosis

* Offspring are identical to the parents, and to each other

40
Q

What equation can we use to calculate genotype frequencies in a population?

A

Hardy Weinberg Equation:

a² + 2(ab) + b² = 1

41
Q

In a population of otters (Lutra lutra) in Scotland there are two alleles at a locus of interest. Allele A has a frequency of 0.7 and allele B a frequency of 0.3 What proportion of each genotype would you expect in such a population if it was at Hardy-Weinberg equilibrium?

A
AA = 0.49 
AB = 0.42 
BB = 0.09
42
Q

karyotype =

A

the complete set of chromosomes of an individual

43
Q

Synteny =

A

Conservation of regions of chromosomes between species

44
Q

Homologue =

A

genes that share a (hypothesised) common ancestor

45
Q

Orthologue =

A

genes that share a common ancestor but have separated with speciation

46
Q

Paralogue =

A

descendants of a duplicated gene

47
Q

Euploid =

A

A change in the number of complete sets of chromosomes e.g 4n –> 5n

48
Q

Aneuploid =

A

change in the number of individual chromosomes e.g

46 —> 47 (Down syndrome)

49
Q

Autopolyploid =

A

chromosomes coming from one species

50
Q

Allopolyploid =

A

Chromosomes coming from different species