epigenetics Flashcards
darwin
Darwin first conceived the theory of evolution by natural selection, and that adaptive heritable characteristics were passed on from parent to offspring. This led to the publication of “origin of the species”
punnett squares
show the chance of a dominate and recessive gene, specifically an allele being passed from parent to offspring
chromosomea
Out of the 23 pairs of chromosomes we have in ur DNA, 1-22 are called autosomes, and the 23rd is the sex chromosome (XX for females, as here, or XY for males). We inherit one chromosome from each of our parents
alleles
Alleles are alternate forms of a gene inherited one from the father and one from the mother (and so found on corresponding sites on homologous chromosomes). There can be dominant and recessive versions of the gene.
In any combination with the dominant version, it is the one that is expressed. The recessive only expresses in the absence of the dominant.
what do genes show
Genes are responsible for the type of the body they express (e.g., the eye colour). Alleles dictate what the characteristic of that body part is expressed (e.g., blue, brown, green, grey, etc)
autosomal dominant diseases
for example Huntingdon’s. means it is always carried on the dominant gene. Therefore, when one parent has it, it expresses 50% of the time. If both parents have it, there is a 75% chance of the child inheriting.
ketys research
schizphrenia
We can look at concordance for a variety of phenomena by exploring the degree to which individuals are biological related and/or have shared environments.
Individuals who do not have a shared environment BUT have a biological parent who has schizophrenia have a 9x higher chance of developing schizophrenia than is observed in the general population.
fischers twin study
schizophrenia
The concordance rate, the probability that a second twin will develop a disorder if the proband (first examined) twin has the disorder, is commonly used. The concordance rates of schizophrenia for monozygotic twins have been found to be about 40 to 50%, and heritability estimates are around 80%.
4 laws of behavioural genetics
Turkenheimer (2000), Chabris et al., (2015)
- All human behavioural trait are heritable
- The effect of the genes is larger than the effect of the shared environment
- A lot of variance is not attributable to either genes or shared environment
. Most complex traits are shaped by many genes of small effect
DNA
Chromosomes are a packaging system for DNA, and form the essential unit in cell division. It is wound around spool-like histone proteins such that the total of about 2 metres of DNA in our cells can be packing into about 0.1 mm of chromatin
(Adenine-Thymine and Guanine-Cytosine)
DNA replication
To replicate, the strands unwind; each nucleotide attracts its complementary base (floating about in the cell nucleus), making two DNA molecules identical to the original
Replication errors affecting particular genes are called mutations
gene expression
just having a gene doesn’t do a whole lot. It’s only when the gene expresses itself (by triggering protein synthesis) that it has an effect. Gene expression depends heavily on the organisms internal and external environment
Polygenicity
involvement of multiple genes in 1 trait e.g. ADHD – 33 genes
Pleiotropy
involvement of one gene in multiple traits e.g. phenylketonuria
epigentetic mechanism
RNA methylation
DNA methylation
Histone acetylation