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
when does meiosis 1 begin? (female)
in the fetus
26
when is meiosis 1 completed? (female)
at ovulation
27
when does meiosis 2 begin?
during ovulation it is restarted by LH surge then stops again
28
when is meiosis 2 completed?
after fertilisation
29
define polar body
remnant cell that contains the unwanted DNA content
30
define transcription
process of making a single-strand pre-mRNA
31
how is pre-mRNA made?
using 1 of the DNA strands as a template by RNA polymerase
32
define post-translation modification
further modifications of proteins for their function
33
7 post-translation modifications
phosphorylation glycosylation palmitoylation polyubiquitination disulphide bond acetylation methylation
34
define phosphorylation
addition of phosphate on Ser, Thr, Tyr
35
define glycosylation
attach glycans
36
define palmitoylation
added fatty acid drives protein association with membrane
37
define disulphide bond
sulphur atoms of 2 Cys
38
define acetylation
adding an acetyl group
39
define methylation
adding a methyl group
40
define transcriptome
the whole population of mRNA and non-coding RNAs in a cell, tissue or organ at one time
41
define proteome
population of proteins in a cell, tissue or organ at one time
42
define single nucleotide polymorphism
a variation in a single nucleotide that occurs at a specific position in the genome
43
2 chromosomal abnormalities
structural numerical
44
define structural abnormality
a large piece of a chromosome may be deleted, duplicated or inverted
45
define numerical abnormality
the number of chromosomes may be altered
46
2 common DNA damage
depurination deamination
47
define depurination
purine (A or G) just comes off
48
define deamination
amine residue comes off especially from cytosine
49
if cytosine is methylated, the amino group may come off easily, becoming ...
thymine
50
define pyrimidine dimers
adjacent pyrimidines (C or T) dimerise
51
what is the role of endonuclease in DNA repair?
cut DNA at the site of the dimer
52
what is the role of exonuclease in DNA repair?
remove the dimer and nearby nucleotides
53
what is the role of DNA polymerase in DNA repair?
fills the gap
54
what is the role of DNA ligase in DNA repair?
join the 2 tandem fragments
55
3 consequences of substitution
missense mutation nonsense mutation silent mutation
56
define missense mutation
change of the encoding amino acid
57
define nonsense mutation
change of an amino acid codon to a stop codon
58
define silent mutation
resulting in the same amino acid coding
59
consequence of single nucleotide deletion? what does is result in?
frame shift in translation results in a wrong amino acid sequence until a stop codon appears
60
consequence of large deletion
a block of DNA may be removed
61
define locus
the position of a gene on the chromosome
62
define allele
one of the 2 homologous genes on the same locus
63
define homozygote
organism in which the 2 alleles of a given gene are the same
64
define heterozygote
organism in which the 2 alleles of a given gene are different
65
define dominant allele
more influential to the phenotype may mask the other allele
66
define dominant mutation
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
define recessive mutation
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
define epigenetic modification examples
heritable changes in genes without DNA sequence changes DNA methylation histone de-acetylation