topic 2 (biology of development) Flashcards

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1
Q

how any pairs of chromosomes do we have?

A

23

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2
Q

what is an autosome?

A

a non sex chromosome

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3
Q

how many pairs of autosomes do we have?

A

22

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4
Q

whats the difference between the structural DNA sequence and the regulatory DNA sequence?

A
  • structural DNA sequences direct the assembly of particular proteins
  • regulatory DNA sequences influences the expression of genes, acting as an on/off switch for particular genes
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5
Q

what is the difference between mitosis and meosis?

A

MITOSIS

  • typical cell division
  • 2 new cells are exact replicas of parent cell

MEOSIS

  • type of cell division for sexual recombination
  • original cell splits into 4 different cells
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6
Q

what are three ways that genetic variation is ensured in offspring

A
  1. Segregation- you only get one chromosome of each pair of chromosome transmitted
  2. independent assortment- the pairing of homogolous chromosomes is random
  3. Crossing over means that also the order of genes remains the same, which gene variant is inherited by the parent may vary
    - this results in an infinite number of gene variation
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7
Q

what are different variants of genes called?

A

alleles

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8
Q

what are 4 prenatal environmental inputs on development?

A

hormones

substances consumed by mother

mothers illnesses

late gestation

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9
Q

what are 5 postnatal environmental inputs on development?

A

alcohol/druges

environmental toxins

infectious diseases

parental love

nutrition

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10
Q

what is a gene regulatory cascade?

A

a cascade of events after environmental triggers influence the expression of genes which then in turn influence the expression of other genes

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11
Q

what is canalisation?

A

the fact that “developmental reactions, as they occur in organisms submitted to natural selection…are adjusted so as to bring about one definite end-result regardless of minor variations in conditions during the course of the reaction

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12
Q

what are the two main types of epigenetic mechanisms?

A
  • DNA methylation - when methyl groups are added to certain DNA bases
  • Histone modification- when different molecules attach to the histones of DNA proteins, these alter the activity of the DNA wrapped around them
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13
Q

What is passive gene-environment correlation?

A

Passive gene–environment correlation refers to the association between the genotype a child inherits from their parents and the environment in which the child is raised.

Parents create a home environment that is influenced by their own heritable characteristics.

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14
Q

Whats evocative gene environment correlation?

A
  • inherited tendencies evoke certain responses from others
  • for example a child with a predisposition to behavioural problems may evoke harsher parenting which may exacerbate behavioural problems
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15
Q

what is active gene environment correlation?

A
  • genetic make up encourages ‘niche’ choices
  • e.g child who is genetically good at football decides to join a football club
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16
Q

what are 3 types of gene-environment correlation?

A

passive, evocative, active

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17
Q

what is the abbreviation for the heritability estimate?

A

h^2

(h squared)

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18
Q

what is the heritability formula?

A

heritability (h^2) = 2 x (MZ correlation - DZ correlation)

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19
Q

do twin studies measure the differences in means or the variance?

A
  • twin studies are a measure of variance
  • so if 90% of height is heritable, that does not mean that 90% of the height value is inherited, instead it means that 90% of the variation between individuals heights is accounted for by genes
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20
Q

what is 1 advantage and 1 disadvantage of twin studies?

A

ADV: allows us to estimate the relative contribution of genes vs environment in explaining individual variation in a trait

DISADV: the standard twin designs cannot tell us about the importants of gene environment interactions or gene environment correlations

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21
Q
A
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22
Q
A
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23
Q

what is pleiotropy?

A
  • the finding that one gene can influence multiple traits
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24
Q

what does polygenic mean?

A
  • when a trait is influenced by multiple genes
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25
Q

are most traits genetically homogenous or genetically heterogeneous?

A
  • most traits are genetically heterogeneous
  • this means that for different people, different sets of genes may be involved in a condition or a trait
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26
Q

what have studies into autism shown about the heritability of autism?

A
  • twin studuies have shown that autism is highly heritable
  • molecular genetic studies indicate that there is not one gene for autism
  • different genes may be involved in autism for different people
  • within each individual a combination of different genes may have contributed to the development of autism
  • autism is genetically heterogenous and polygenic
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27
Q

do epigenetic modifications alter the sequence of base pairs?

A
  • no
  • epigenetic modifications create phenotypic modification without altering the base pair sequence of genes
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28
Q

what are 3 types of epigenetic modification?

A
  1. HISTONE MODIFICATION
    - A methyl group may bind to the tails of histones
    - This can cause DNA to be unwrapped or be stopped from unwrapping from the histone
    - (histone unwrapping must take place in order for transcription to take place)
  2. GENE METHYLATION
    - A methyl can bind to the base pairs of genes
    - This can prevent transcription from taking place
  3. MRNA MODIFICATION
    - mRNA modification can mean that mRNA translation can be enabled or blocked
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29
Q

how many sperm cells are there initially and how many end up reaching the egg?

A
  • initially there are millions of sperm cells
  • only 50-100 end up reaching the egg
  • 1 sperm cell ends up penetrating the egg (the is a chemical process that stops the other sperm from penetrating)
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30
Q
A
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31
Q

what happens in the germinal stage?

A

implantation

32
Q

after how many weeks is the embryo fully implanted?

A

2 weeks

33
Q

when does a fertilised egg become an embryo?

A

when it is fully implanted

34
Q

how many hours after fertilisation is the first division of the embryo?

A

2 hours

35
Q

what is the cells bundle called 4 days after fertilisation and how many cells is it?

A
  • morula
  • 16 cells
36
Q
A
37
Q

what happens to the cells 5days after fertilisation?

A

outer and inner cells differentiate

it is now called a blastocyst

outer cells become the placenta and inner cells become the foetus

38
Q

what happens to the blastocyst 16 days after fertilisation?

A
  • blastocyst inner cell mass differentiates into ectoderm, mesoderm and endoderm
  • this is called gastrulation
39
Q
A
40
Q

what 3 types of cell may an embryonic cell differentiate into?

A

ectoderm

mesoderm

endoderm

41
Q

what 2 categories can ectoderm cells differentiate into?

A

skin

nerve tissue

42
Q

what 3 categories can the mesoderm differentiate into?

A

muscle

organs

skeleton

43
Q

what are three features of the embryonice stage (week 3-8)

A
  • large changes in body structure
  • large changes in size
  • cells are differentiating
44
Q

what are 2 features of the foetal stage (week 9-birth)

A
  • characterised by heartbeat and facial features

-

45
Q

at how many weeks can some foetuses survive with neonatal intensive care

A

22 weeks

46
Q

at how many weeks do fully developed lungs appear?

A

28

47
Q

what are homeobox genes?

A
  • a homeobox is a DNA sequence found within genes that are involved within the regulation of patterns of anatomical development
  • homeobox genes encode homeodomain proteins
  • these proteins regulate genetic switches that affect the general structure and organisation of body parts
  • these homeobox genes are highly specific resulting in species specific body parts
48
Q
A
49
Q

what is a teratogen?

A
  • harmful environmental factors that can disturb prenatal development
  • e.g medication taken by mother, pollution etc
  • they largely exert effect during critical periods of development
50
Q
A
51
Q

what is the relationship between smoking and birth weight?

A
  • there is a linear relationship between smoking and birth weight
  • smoking is associated with a lower birth weight
  • babies born to women who smoke weigh on average 200g less than babies born to non-smokers
52
Q

outline foetal alcohol syndrome

A

foetal alcohol syndrome is caused by excessive alcohol use during pregnancy

it involves:

distinctive facial features

intellectual disability

behavioural and emotional problems

53
Q

how does alcohol exposure and genetics in pregnancy interact?

A

the mothers genes may impact how harmful the alcohol is to the pregnancy

if the mother metabolises alcohol quickly the effects may be less harmful than if she didnt

54
Q

outline thalidomide and pregnancy

A
  • thalidomide was a drug used to treat morning sickness in the 1960’s
  • it turned out to cause stunted growth of limbs
  • it is thought that it interfered with the activity of the genes that regulate normal limb growth and/or with timing signals of the homeobox genes
  • the specific effects of thalidomide depended on when in pregnancy the drug was used
55
Q
A
56
Q

what is microcephaly?

A
  • being born with an abnormally small head
  • it is often associated with severe brain damage
57
Q

what teterogen virus is microcephaly associated with?

A

zika virus

58
Q

roughly what percentage of children exposed to zika virus were born with microcephaly?

A

24%

59
Q

what percentage of children exposed to zika virus had neurological abnormalities?

A

68%

60
Q

what percentage of children exposed to zika virus had low and very low cognitive ability scores?

A

27% had low

9% had very low

61
Q

what can vary the effect of a terotagen?

A
  • genetics
  • length and intensity of exposure
  • timing of exposure
62
Q

at how many weeks after conception does the neural tube start to form?

A

3 weeks

63
Q

what happens 4 weeks after conception?

A
  • the neural tube is almost completely closed
  • the forebrain, midbrain and hindbrain are distinct
64
Q

at how many weeks after conception are the cerebral vescicles present?

A

5 weeks after

65
Q

what is the case by 10 weeks after conception?

A

major central nervous system structures are now visible

66
Q

what is the brain like at 20weeks after conception?

A

the brain weighs about 100g

the cortical surface appears smooth

67
Q

how much does the brain weigh at 38weeks- birth?

A

350 to 400 grams

68
Q

what is the general order of development of cognitive structures/functions

A
  • structures supporting vital functions such as heartbeat and breathing develop first
  • Structures suporting basic motion and sensing stimuli develop next. These precede development of complex coordination
  • Structures involved in complex reasoning and executive function develop last
69
Q

what areas of the brain develop first and are vital for survival?

A
  • the brainstem, which is involved in regulating heartrate, breathing and automatic processes
70
Q

What area of the brain is last to develop?

A

the pre-frontal cortex, essential for executive functioning

71
Q

what are the 3 main stages of prenatal neuronal development?

A
  1. Proliferation - new neurons being created (neurogenesis)
  2. Migration - new neurons are born in the centre of the developing brain and move outwards
  3. Synaptogenesis - the forming of synapses. This starts prenatally and continues postnatally
72
Q

does myelination of sensory areas happen before or after birth?

A

before birth

73
Q

does myelination of the cortical areas happen before or after birth?

A

after birth, continuing well into adulthood

74
Q

what happens to the volume of grey matter as we age?

A

it decreases, due to programmed cell death and synaptic pruning

75
Q

what happens to the volume of white matter as we age?

A

it increases, due to increased myelination

76
Q
A