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Developmental > SPRING Genetics > Flashcards

SPRING Genetics Flashcards

1
Q

what is a gene

A

nucleic acid sequences that function as units of hereditary
code basic instructions for the development, reproduction and maintenance of organisms
contributes to phenoypes and functions

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2
Q

how might a gene be characterised

A

in terms of its function, seqence, ranscription or homology (same sequence across species)

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3
Q

what is a genome

A

all the genetic material in the chromasomes of a particular organism
all cells in the body - size generally given as no. base pairs
all 23 - males 22 exact + XY

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4
Q

how can psychoogy look into the endophenotype

A

microbiological techniques to investigate gene expression (ie GFP imaging)
and indirect measures via neuronal activity (ie fmri PET) or neuronal stimulation

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5
Q

what counts as endiphenotype

A

proteins
neural measures
behaviour

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6
Q

genotype

A

ie dna

expression as proteins

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7
Q

how might endophenotype measures infer genotype

A

differences in endophenotype suggest differences in genotype

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8
Q

describe diagnosis in pschology

A

differences in clinical diagnosis refers to clinical phenotype
observable dichotomous variables in which to classify groups of individuals
problems in endophenotype may lead to development of a clinical phenotype

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9
Q

what are the 3 aspects of genetics

A

molecular
behavioural
population

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10
Q

what is molecular genetics

A

deals with readouts of DNA and its products
ATCG bases - build to form code for development of specific proteins
products: DNA, RNA, PROTEINS

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11
Q

what is behavioural genetics

A

utilises priniciples of shared genetic variation to infer genetic contribution to specific phenotypes
not directly read DNA sequence but test whether given phenotypehas a genetic contribution
ie similar dna MZ more likely to express same phenotype

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12
Q

what is population genetics

A

connects behavioural and clinical phenotypes with molecular genetic readouts
ie is phenotype x linked with phenotype y

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13
Q

bases

A

ATCG

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14
Q

what is a locus

A

location on a chromosome where there is specific genetic variation on the double helix
inheret 1 ch from mum and 1 from dad - relatively identicle but discrepancies may occur where diff allele on same gene

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15
Q

what is an allele

A

any possible form of a specific gene
two alleles inherited on the same locus of each chormosomal par
discrepancy may occur via mutation or heredity

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16
Q

homozygous

A

same

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17
Q

heterozygous

A

different

18
Q

what is a nucleotide

A

form the basic structural unit of nucleic acis in DNA
made up of phosphate, base and pentose sugar
links as building blocks

19
Q

what is a chromosome

A

structure of nucleic acids and proteins
carry genetic info in form of genes
tightly wound dna

20
Q

what is epigenetics

A

investigations into the determining factors of what alleles get expressed
ie add chemical tags to turn on or off a gene

21
Q

unravel the DNA helix

A

doule helix tightly wound by connections made between two dtrands - connected by base pairs ATCG
the coding of the bases determines the sequence of amino acids in the proteins of an organism

22
Q

what is the basic sequence for the centra dogma

A

DNA - preMRNA - mRNA + tRNA - protein

23
Q

describe the process of transcription

A

DNA helicase breaks hydrogen bonds between bases which exposes nucleotide bases

RNA polymerase moves along template strand and joins free floating nucleotides with complementary base pairs = preMRNA

recognise stop codon and detaches

24
Q

describe the splicing process

A

intervening non functional introns are removed and functional exons are joined = mrna

25
Q

describe translation

A

mrna to cytoplasm
tRNA carrying complementary base pairs (anticodon sequence) and specific amino acid joins to mRNA
ribosome brings together tRNA and mRNA by joining amino acids by peptide bond

26
Q

what terms should not be used when talking about genetic variation

A

mutation - indiated chance and disease causing change
polymorphism - indicates non disease causing change and change with a frequency of 1% or more in the population
also both have negative connotations

27
Q

what terms should be used when talking about genetic variation

A

sequence variant
alternation
allelic variant

28
Q

what are sequence variants

A

single base pairs that differ between individuals
ie single nucleotide polymorphisms (SNPs) - sight diffrences in alleles between individuals on the locus of a chromosome (allelic variant)

29
Q

what are UTRs

A

DNA translated to RNA but not to specific proteins

30
Q

what is a VNTR

A

variable number tandem repeat

short repeating sequence (10 bases) which may have different no repetitions depending on the sequence

31
Q

what is a CNV

A

copy number variation
>1000 bases and de novo
whole stretches of DNA missing that has big impact on phenotype

32
Q

define de novo

A

happening at the start of gamete devision during fertilisation

33
Q

what is trasponsons

A

the mobile elements within a gamete
elements move around between chromosoms
DNA not rigid

34
Q

way of measuring sequence variation

A

polymerase chain reaction (PCR) or microarrays

35
Q

what is a polymerase chain reaction (PCR)

A

look at one variant at a time
southern blotting
look at single differences between individuals

36
Q

what is microarrays

A

look at millions of variants at any one time

37
Q

what are animals useful when looking at genetics

A

shorter reproductive and life cycle so can look at whole families
easure to manipulate phenotype and genes
simpler phenotypes
ie mouse, fruitfly, zebrafish

38
Q

what are the different kinds of genetic engineering

A

gene knockout

gene replacement

39
Q

what is gene knockout technique

A

use restriction enzymes to selectively chop ot genes and create animals w/o
see if have a behavioural deficit

40
Q

what is gene replacement

A

replace mouse gene with homologous human gene
ie via viral infection and restriction and ligase enzymes
see if have same effect/influence

41
Q

use of human models in genetics

A

variety of complex phenotypes - observable and cant be manipulated by engineering
must rely on natural experiments

42
Q

human studies of genetics

A

behavioural genetics ie twin studies

genetic association studies ie certainty that sequence variant is associated with a specific phenotype

Developmental (17 decks)

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