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Behavioural genetics > Key word defs > Flashcards

Key word defs Flashcards

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Biology 101 flashcards
1
Q

Genome

A

All the DNA

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2
Q

Gene

A

Sequence of DNA which codes for proteins, not all DNA is genes there is DNA between them which has other functions

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3
Q

Single nucelotide polymorphisms

A

small differences in dna sequence where a single base is altered

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4
Q

DNA sequence overlap

A

the degree of similarity between peoples DNA dependent on relatedness

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5
Q

Copy number variants

A

Lesions where parts of chromosomes are either missing or duplicated. They are always heterozygous as being on both chromosomes isn’t compatible with life. Inheritted or de novo.

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6
Q

Cross fostering

A

Having two batches of babies and swapping the mothers babies so they raise their non biological offspring, used to find out the genetic contribution of traits

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7
Q

Shared environment

A

A confound in family and twin studies, we tend to live with our first degree relatives making it hard to seperate what we have got from them genetically and what we have learned from them envoironmentally

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8
Q

equal environments assumption

A

assuming that twins share the exact same environment either outside the womb (MZ twins are treated differently than DZ) or inutero (degree of amniotic sac sharing)

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9
Q

genetic determinism

A

we are entirely predisposed to be how we are based on our genes, dangerous as can be used to justify inequality and eugenics

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10
Q

Blank slate ideology

A

we have no psychologically innate traits we are solely our experience

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11
Q

Passive gene environment correlation

A

parents who transmit genes to their children also help to create the environment they are reared in

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12
Q

evocative gene environment correlation

A

environments people experience are in part a function of how others react to their genetically influenced behaviour

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13
Q

active gene environment correlation

A

individuals actively construct their environments by selecting experiences that reinforce or complement their inherited abilities, dispositions and interests`

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14
Q

G×E Contextual Triggering

A

genetic effects are triggered or amplified by exposure to high risk environment e.g. MAO-A gene

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15
Q
  • G×E Social Context as Social Control
A

the existence of environments that suppress the expression of genetic effects. Typically, this suppression occurs because the environment limits individual choice.

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16
Q

Heritability

A

Estimate of the overall genetic contribution of a condition.

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17
Q

Ascertainment bias

A

certain features impact on the incidence of a certain trait/ disorder e.g. parents of boys are more likely to go to the gp about certain symptoms and therefore the boys are more likely to get a diagnosis/ help, so is it true that boys have higher risk etc or just that there is ascertainment bias

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18
Q

Linkage mapping

A

Look at the incidence of a given trait/ disorder in an extended family and use DNA markers to narrow down the bits of the genome which are transmitted within the condition across family members

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19
Q

Mendelian disorders

A

Fully penetrant, a type of genetic disorder primarily resulting due to alterations in one gene

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20
Q

Penetrance

A

how damaging it is

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21
Q

Non mendelian

A

multigenic conditions

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22
Q

Association studies

A

‘Is there a reliable (statistically significant) enrichment of a given genetic variant (i.e. difference in DNA sequence) in cases (people with the disorder) than in an independent sample of control (healthy) subjects?

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23
Q

candidate led studies

A

are variants in my favourite gene suspect associated with disorder <– pick a gene and then test, hypothesise

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24
Q

GWAS

A

genome wide association studies- start with no hypothesis or expected gene. screen whole genome and look for differences between cases and controls

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25
Q

DNA chips

A

microscope slides that are printed with thousands of tiny spots in defined positions, with each spot containing a known DNA sequence or gene

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26
Q

enrichment

A

SNP allele frequency, highly enriched for risk alleles

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27
Q

polygenic risk

A

common risk SNPs that, singly, are not very damaging but when accumulated could in some individuals provide significant risk.

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28
Q

allele frequency

A

how common in the population they are

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29
Q

next generation sequencing

A

significantly better resolution than ‘DNA chip’ technology, therefore good for revealing rare variants

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30
Q

rare variants

A

alternative forms of a gene that are present with a minor allele frequency (MAF) of less than 1%

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31
Q

ultra rare variants

A

dURVs—damaging variants unique to a single individual

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32
Q

Fecundicity

A

how many (fertile) offspring you have. e.g. Are high penetrant genetic variants rare in the population because they are damaging to fecundity, whereas low penetrant SNP variants are common because they are less damaging to fecundity?

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33
Q

Missing heritability

A

When you look at percentage of risk that is estimated by genetics it does not match the molecular genetic work which estimates that actual estimates of genetic contribution to a disorder. e.g. for highly heritable schizophrenia (60-80% heritability estimate) all the current known risk variants (not only those that satisfy genome-wide significance) amount to about 30% of the heritability.

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34
Q

Pleiotropy

A

Influence multiple characteristics, 22q11.2 deletion is a risk gene for heart probs and autism and schizophrenia

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35
Q

induced pluripotent stem cells

A

Now possible to ‘reprogramme’ human somatic cells (e.g. skin or hair or blood cells) taken from a patient suffering from a brain disorder back to a pluripotent stem cell state to form induced Pluripotent Stem Cells (iPSC, only called tis when they have been reprogrammed) from which it is possible to make neurons … and ‘mini brains (organoids whereby iPSC derived neurones self organise’. we can model brain disorders in a dish

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36
Q

Genetic liability

A

to have the same genetic liability is meaning they maintain the same genome e.g. ipscs have the same genetic liability as the OG cells

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37
Q

 Allelic pleiotropy

A

a subtype of genic pleiotropy, occurs when the same gene variant influences multiple traits

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38
Q

Mediated pleiotropy

A

Mediated pleiotropy occurs when an allele influences two traits, but its effects on one are secondary to more direct effects on the other.

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39
Q

Pseudo-pleiotropy

A

Pseudo-pleiotropy can arise as a result of imprecision in gene mapping, wherein two phenotypes are influenced by different genes in close proximity or poor study design

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40
Q

Transciption

A

is the process of reading the DNA and creating RNA

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41
Q

Translation

A

ranslation is synthesising proteins from this RNA.

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42
Q

Epigenetics

A

Long lasting, stable regulation of gene expression (activity), marks upon the genes which create further variation

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43
Q

Specialisation

A

totipotent cells developing to be for a specific function, which genes will be expressed

44
Q

Maintenance of cells identity

A

Once cells have differentiated you need to maintain that cells identity as it replicates into daughter cells.

45
Q

Altering the transcriptional capability of DNA

A

Altering the ability of enzymes to access the DNA, a form of epigenetics

46
Q

DNA methylation

A

Chemical modification of a base, adding a methyl group which typically will then mean that that gene will not be transcribed, it is silenced.

47
Q

Histones

A

proteins around which DNA is bound. Histones are the main component of chromatin. Chromatin compacts and provides stability and structure to the DNA.

48
Q

X-inactivation

A

Balances X-gene expression in females (XX) with males (XY)

49
Q

Writers

A

Enzymes that add epigenetic marks, they are factors which regulate epigenetic state

50
Q

Erasers

A

Enzymes that remove epigenetic marks, they are factors which regulate epigenetic state

51
Q

Readers

A

Readers – proteins that read (or bind) an epigenetic mark, they are factors which regulate epigenetic state

52
Q

Neurogenic cell

A

brain cell

53
Q

Kleefstra or 9q34 syndrome

A

Low muscle tone - hypotonia, seizures, developmental delay, mutation in EHMT1, an epigenetic writer

54
Q

Rett syndrome

A

ASD like symptoms, only affects biological features, loss of speech, mutation on X chromosome;an epigenetic reader

55
Q

Angelman syndrome and Prader Willi

A

neurodevelopmental disorders caused by the same mutation to 15q11-q13.which disorder is dependent on whether the deletion occurs on the maternal or paternal inheritted chromosome.
AS caused by de novo loss of maternal gene expression due to (epi)genetic mutations affecting the imprinted gene cluster on chromosome 15q11-q13
PWS caused by de novo loss of paternal gene expression due to (epi)genetic mutations affecting the imprinted gene cluster on chromosome 15q11-q13

56
Q

parthonogenic embryos

A

created in a lab, where the embryo had two copies of the paternal gene not one of each and these were not viable so there must be something that distinguishes maternal and paternal copies they cannot be equivalent.

57
Q

Social insects

A

Social means function in massive groups almost as one organism, e.g. ants

58
Q

CpG islands

A

regions of the genome that contain a large number of CpG dinucleotide repeats. In mammals, the majority of DNA-methylation happens here.

59
Q

Gametogenesis

A

the process in which cells undergo meiosis to form gametes

60
Q

Eusocial

A

living in a cooperative group in which usually one female and several males are reproductively active and the nonbreeding individuals care for the young or protect and provide for the group, e.g. ants

61
Q

Transgenerational epigenetic marks

A

epigenetic marks which transmit from parent to offspring

62
Q

Assisted Reproductive Technologies and epigenetics

A

in vitro culture (taking out an egg and then putting a sperm and putting it in a dish) of embryos disrupts developmentally programmed epigenetic processes? this is due to the artificial environment the culture happens in compared to when it is done naturally in the body. e.g the increased rate of AS in ART babies, ALL due to epimutations not genomic mutation

63
Q

epi-pharmaceutical intervention

A

administration of drugs which alter dna methylation.
like Histone deacetylase inhibitors (chemical compounds that inhibit histone deacetylases.) which increases acetylation of histones to the low licked pups lead to Increased H3K9 acetylation at GR promoter, Decreased DNA methylation, Increased GR expression- making them more like the highly cared for pups.

64
Q

DNA methylome

A

methylation across the whole genome

65
Q

epigenetic clock theory of ageing

A

Numerous studies have shown that epigenetic age—an individual’s degree of aging based on patterns of DNA methylation—can be computed and is associated with an array of factors including diet, lifestyle, genetics, and disease

66
Q

Epigenome-Wide Association Studies

A

Genome wide screens of epigenetic change associated with a disease phenotype

67
Q

Transgenerational epigenetic inheritance

A

environmentally mediated epigenetic & phenotypic changes transmitted across generations
- behavioural inheritance not fixed in germ line
- germline changes, changing epigenetic status of germ cells via maternal or paternal

68
Q

Sex differences

A

variations in biology between men and women

69
Q

Gender differences

A

Differences between men and women bith in terms of biology and self representation as shaped by the environment

70
Q

egalitarian socieities

A

socieities with equal treatment of the sexes

71
Q

sexually dimorphic brain regions

A

systematic difference in form between individual’s brains of different sex in the same species

72
Q

WEIRD populations

A

Western, Educated, Industrialized, Rich and Democratic populations

73
Q

psuedo genes

A

nonfunctional segments of DNA that resemble functional genes. Most arise as superfluous copies of functional genes

74
Q

SRY

A

Sex-determining Region on Y- a gene, the testis-determining gene
can influence brain development/function indirectly via gonadal hormones
SRY expression during 6-8 weeks- embryogenesis causes bipotential gonads to differentiate into testes

75
Q

Extreme male brain theory of autism

A
  • Men systemise whereas empathise
  • Exaggeration of male phenotype
  • People with autism may be exposed in utero to high levels of androgens
76
Q

Gynandromorphic birds

A

male one side and female the other , both in appearance and in the brain BUT very cell in its body is surrounded by the same level of hormones so must be something acting other than hormones.

77
Q

Karyotype

A

chromosome

78
Q
  • Haplogroup
A

A haplogroup is a genetic population group of people who share a common ancestor on the patriline or the matriline, A haplotype refers to a set of DNA variants along a single chromosome that tend to be inherited together

79
Q

Deletion mapping

A

Deletion mapping allows you to see precisely which region is responsible for the phenotypical deficit, it means you can find a candidate gene region.

80
Q

Turner syndrome

A

20% higher in adhd likelihood and higher autism rates. a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects

81
Q

superhapolotype

A

a chromosome where all super versions of a gene end up on one x chromosome. E.G. all the high IQ genes end up on one chromosome

82
Q

transient sex difference

A

reversable sex difference

83
Q

masculinisation / feminisation

A

any change that makes an animal more like typical males or females. Masculinization and defeminization are not synonymous because the differentiation of tissues subserving feminine functions can be independent of differentiation of tissues subserving masculine functions. For example, some treatments may masculinize, but not defeminize.

84
Q

Gonadectomy

A

an operation to remove the gonads. These are the organs that develop into either ovaries or testes

85
Q

Baby blues

A

Affects up to 50% of women after birth, mood swings, crying , overwhelm, short period

86
Q

Post partum depression

A

afters 10% to 40% and require treatmnent, symptoms of baby blues but also possible thoughts of harming self or baby

87
Q

puerperal psychosis

A

post partum psychosis, 1-2 in 1000 women with onset within a couple days/ weeks of birth, hallucinations/delusions, cogntive distortion

88
Q

puerperal psychosis

A

post partum psychosis, 1-2 in 1000 women with onset within a couple days/ weeks of birth, hallucinations/delusions, cogntive distortion

89
Q

dissociability

A

un associated with

90
Q

primiparity

A

A medical term used to refer to a condition or state in which a woman is bearing a child for the first time

91
Q

nanopore sequencing

A

take a string of dna and pass it through a protein channel and everytime a different base passes through it causes an electrical current and by measuring the current we can determine which base it is therefore the order of the bases. doesnt need sample amplification or chemical labelling

92
Q

Saviour siblings

A

people having a second child in the hopes theyll be a genetic match so they can donate bone marrow to save the affected child

93
Q

mendelian randomisation

A

Mendelian randomization is a method of using measured variation in genes of known function to examine the causal effect of a modifiable exposure on disease in observational studies.

94
Q

nutrigenomics

A

genetically informed diets

95
Q

CRISPR

A

Clustered Regularly-Interspaced Short Palindromic Repeats
RNA-guided genome editing tool based around components of prokaryotic ‘immune system’
Tissue (e.g. stem cells from blood) can be removed from patient, gene defect corrected, and tissue re-implanted Again, limited utility for complex polygenic disorders with neurobiological basis. More useful for monogenic conditions
You could possibly rescue fragile x or use for cystic fibrosis

96
Q

Optogenetics

A

Get a gene which encodes a protein which is responsive to certain wavelength of light and stick that gene into the bit of the brain you are interested in and then shine alight using an implanted canular into the brain and when you shine that light it cause the proteins to activate the neurons in that bit of brain circuitry. Means you can easily activate a brain region which could tell us about disorder brain dysfunction

97
Q

DREADDs

A

Modulation of neural circuits (not single genes) via introduction of genes for non-endogenous drug receptors
Receptor binding can cause increased (Gs or Gq-DREADD) or decreased (Gi/o-DREADD) cellular activity
Chemicals can switch on or off bis of the brain. Bc the brain is highly vascularised the chemicals get dep into the brain easier than light in opotgenics. So greater degree of control

98
Q

D2C genetic testing

A

Genome analysis, not sequencing, for cheap and it provides risk liklihood of different conditions. arguement of whether it is a consumer appliance or a medical tool, so should it be avaliable to the public the way it is

99
Q

genetic counselling

A

Genetic counseling gives you information about how genetic conditions might affect you or your family.

100
Q

protection of freedoms act

A

*People not charged/acquitted of minor offences will have records deleted
People not charged/acquitted of serious offences will have records deleted 3 years after arrest
People suspected of terrorism offences will have records deleted 3 years after arrest

101
Q

XYY males

A

previously thought males with this genotype were at an increased liklihood for violence and crime and so was used as a criminal defence. Cannot currently be used as a defence due to multifacetted nature of violence

102
Q

Organophosphates

A

a chemical in sheep dip which acts as acetylcholinesterase inhibitors and some people with a certain genotype (* Paraoxonase1 (PON1) ) are more vulnerable to its effects so farmers could do genetics testing to see if they shouldn’t be working in this area.

103
Q

mentally precocious youth

A

IQ> 150

104
Q

g factor

A

general cognitive ability

105
Q

HCNEs- highly conserved CNEs

A

functional conserved non-coding (for proteins) elements

106
Q

APOE4

A

the high risk alzhiemers gene

Behavioural genetics (1 decks)

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