SPRING Genetics Flashcards by Annabel Neller

what is a gene

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

How well did you know this?

Not at all

Perfectly

how might a gene be characterised

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

How well did you know this?

Not at all

Perfectly

what is a genome

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

How well did you know this?

Not at all

Perfectly

how can psychoogy look into the endophenotype

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

How well did you know this?

Not at all

Perfectly

what counts as endiphenotype

proteins
neural measures
behaviour

How well did you know this?

Not at all

Perfectly

genotype

ie dna

expression as proteins

How well did you know this?

Not at all

Perfectly

how might endophenotype measures infer genotype

differences in endophenotype suggest differences in genotype

How well did you know this?

Not at all

Perfectly

describe diagnosis in pschology

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

How well did you know this?

Not at all

Perfectly

what are the 3 aspects of genetics

molecular
behavioural
population

How well did you know this?

Not at all

Perfectly

what is molecular genetics

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

How well did you know this?

Not at all

Perfectly

what is behavioural genetics

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

How well did you know this?

Not at all

Perfectly

what is population genetics

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

How well did you know this?

Not at all

Perfectly

bases

ATCG

How well did you know this?

Not at all

Perfectly

what is a locus

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

How well did you know this?

Not at all

Perfectly

what is an allele

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

How well did you know this?

Not at all

Perfectly

homozygous

same

How well did you know this?

Not at all

Perfectly

heterozygous

different

what is a nucleotide

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

what is a chromosome

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

what is epigenetics

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

unravel the DNA helix

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

what is the basic sequence for the centra dogma

DNA - preMRNA - mRNA + tRNA - protein

describe the process of transcription

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

describe the splicing process

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

describe translation

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

what terms should not be used when talking about genetic variation

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

what terms should be used when talking about genetic variation

sequence variant alternation allelic variant

what are sequence variants

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)

what are UTRs

DNA translated to RNA but not to specific proteins

what is a VNTR

variable number tandem repeat | short repeating sequence (10 bases) which may have different no repetitions depending on the sequence

what is a CNV

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

define de novo

happening at the start of gamete devision during fertilisation

what is trasponsons

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

way of measuring sequence variation

polymerase chain reaction (PCR) or microarrays

what is a polymerase chain reaction (PCR)

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

what is microarrays

look at millions of variants at any one time

what are animals useful when looking at genetics

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

what are the different kinds of genetic engineering

gene knockout | gene replacement

what is gene knockout technique

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

what is gene replacement

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

use of human models in genetics

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

human studies of genetics

behavioural genetics ie twin studies | genetic association studies ie certainty that sequence variant is associated with a specific phenotype