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Bioscience 1 > basic genetics > Flashcards

basic genetics Flashcards

week 10 & 11

1
Q

define diploid cell

A

contains all chromosomes
an autosomal cell

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2
Q

define haploid cell

A

contains half the number of chromosomes

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3
Q

2 errors that can happen in meiosis

A

non-disjunction
unequal translocation

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4
Q

define non-disjunction
examples

A

chromosomes don’t segregate correctly in anaphase which leads to disorders in chromosome number
trisomy of chromosome 21 = downs syndrome
only 1 X chromosome = turner syndrome

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5
Q

define unequal translocation

A

structural rearrangements of chromosomes

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6
Q

define prophase 1
what happens?

A

reduction division
chromosomes condense, homologues align, come together + exchange segments (crossing over), recombinant chromosomes begin to separate

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7
Q

what happens in metaphase 1?

A

nuclear membrane breaks down
chromosomes align in the middle

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8
Q

what happens in anaphase 1?

A

separation/ splitting

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9
Q

what happens in telophase 1?

A

cell splits into 2 haploid daughter cells but with sister chromatids

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10
Q

define meiosis 2

A

equatorial division (mitosis)

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11
Q

define spermache

A

first production of sperm at puberty

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12
Q

define spermatogenesis

A

process of sperm formation
involves mitotic proliferation of spermatogonia to form a primary spermatocyte

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13
Q

define spermiogenesis

A

remodelling of primary spermatocyte that has undergone meiosis to form sperm

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14
Q

define spermiation

A

release of sperm from the support system
sperm can swim away in the tubular fluid

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15
Q

define sertoli cell

A

an autosomal cell/ support cell that has a cytoplasm that engulfs the germ cells differentiating

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16
Q

define primary spermatocyte

A

diploid cell that enters meiosis 1

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17
Q

define secondary spermatocyte

A

haploid cell with 2 chromatids that get separated in meiosis 2 to form the round spermatids

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18
Q

what phase is a pre-egg dormant in?

A

prophase 1

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19
Q

define atresia

A

process of programmed cell death in the ovary which results in continual decline in the number of pre-eggs

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20
Q

primordial follicle =

A

primary oocyte + layer of granulosa cells

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21
Q

what growth factors trigger a primordial follicle to start growing?

A

ovarian

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22
Q

at puberty what can a primary follicle develop into?

A

secondary follicle

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23
Q

what hormone helps to mature the follicle and oocyte?

A

LH

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24
Q

4 stages of follicular development

A

primordial follicle
primary follicle
secondary follicle
tertiary follicle

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25
Q

when does meiosis 1 begin? (female)

A

in the fetus

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26
Q

when is meiosis 1 completed? (female)

A

at ovulation

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27
Q

when does meiosis 2 begin?

A

during ovulation
it is restarted by LH surge then stops again

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28
Q

when is meiosis 2 completed?

A

after fertilisation

29
Q

define polar body

A

remnant cell that contains the unwanted DNA content

30
Q

define transcription

A

process of making a single-strand pre-mRNA

31
Q

how is pre-mRNA made?

A

using 1 of the DNA strands as a template by RNA polymerase

32
Q

define post-translation modification

A

further modifications of proteins for their function

33
Q

7 post-translation modifications

A

phosphorylation
glycosylation
palmitoylation
polyubiquitination
disulphide bond
acetylation
methylation

34
Q

define phosphorylation

A

addition of phosphate on Ser, Thr, Tyr

35
Q

define glycosylation

A

attach glycans

36
Q

define palmitoylation

A

added fatty acid drives protein association with membrane

37
Q

define disulphide bond

A

sulphur atoms of 2 Cys

38
Q

define acetylation

A

adding an acetyl group

39
Q

define methylation

A

adding a methyl group

40
Q

define transcriptome

A

the whole population of mRNA and non-coding RNAs in a cell, tissue or organ at one time

41
Q

define proteome

A

population of proteins in a cell, tissue or organ at one time

42
Q

define single nucleotide polymorphism

A

a variation in a single nucleotide that occurs at a specific position in the genome

43
Q

2 chromosomal abnormalities

A

structural
numerical

44
Q

define structural abnormality

A

a large piece of a chromosome may be deleted, duplicated or inverted

45
Q

define numerical abnormality

A

the number of chromosomes may be altered

46
Q

2 common DNA damage

A

depurination
deamination

47
Q

define depurination

A

purine (A or G) just comes off

48
Q

define deamination

A

amine residue comes off especially from cytosine

49
Q

if cytosine is methylated, the amino group may come off easily, becoming …

A

thymine

50
Q

define pyrimidine dimers

A

adjacent pyrimidines (C or T) dimerise

51
Q

what is the role of endonuclease in DNA repair?

A

cut DNA at the site of the dimer

52
Q

what is the role of exonuclease in DNA repair?

A

remove the dimer and nearby nucleotides

53
Q

what is the role of DNA polymerase in DNA repair?

A

fills the gap

54
Q

what is the role of DNA ligase in DNA repair?

A

join the 2 tandem fragments

55
Q

3 consequences of substitution

A

missense mutation
nonsense mutation
silent mutation

56
Q

define missense mutation

A

change of the encoding amino acid

57
Q

define nonsense mutation

A

change of an amino acid codon to a stop codon

58
Q

define silent mutation

A

resulting in the same amino acid coding

59
Q

consequence of single nucleotide deletion? what does is result in?

A

frame shift in translation
results in a wrong amino acid sequence until a stop codon appears

60
Q

consequence of large deletion

A

a block of DNA may be removed

61
Q

define locus

A

the position of a gene on the chromosome

62
Q

define allele

A

one of the 2 homologous genes on the same locus

63
Q

define homozygote

A

organism in which the 2 alleles of a given gene are the same

64
Q

define heterozygote

A

organism in which the 2 alleles of a given gene are different

65
Q

define dominant allele

A

more influential to the phenotype
may mask the other allele

66
Q

define dominant mutation

A

mutation on the single allele sufficiently causes the phenotype
the presence of a single copy of the wild-type gene does not help rescuing

67
Q

define recessive mutation

A

phenotype is presented only if both alleles have the mutation
the mutant phenotype is not presented if a single wild-type gene is present

68
Q

define epigenetic modification
examples

A

heritable changes in genes without DNA sequence changes
DNA methylation
histone de-acetylation

Bioscience 1 (8 decks)

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