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PHARMACOLOGICAL AND
BIOLOGICAL APPROACHES TO
CLINICAL AND HEALTH
PSYCHOLOGY
LECTURE NOTES
LANA ŠKLRLEC

,LECTURE 1: Genetics

➢ Phenotype vs genotype
Phenotype: Observable outward appearance of a cell or organism. Appearance, e.g., eye color,
Organ structures, molecules, blood group, etc, Personality traits and behavior Versus

Genotype: the genetic makeup of a cell or organism

➢ Chromosomes (slike na slajdih)
Entire set of human DNA (refula + sex chromosomes) = genome. Boys xy, girls xx. We all
have 23 pairs of obozoms? Which are regualr chromosomes not sex chromosomes.
Chromosomes consist of DNA (deoxyribonucleic acid) which is winded by histones (protein,
which makes DNA fit in the cell’s nucleus (>2 m DNA in total for all 46 chromosomes):

Structure of DNA DNA consists of:
• Sugar-phosphate group
• Bases (in pairs) • Adenine (A)
• Thymine (T) • Guanine (G)
• Cytosine (C)
Gene = part of DNA is called gene when it encodes for 1
protein (building block of our bodies, essential for tissue
etc.)

➢ Genes encode for proteins
Gene: has a specific code of letters (base pair order) which
is a template for making proteins: building blocks of body
(e.g., cells, tissues, enzymes). Gene starts with promoter
region and ends with terminator region

From gene to protein:
1. DNA transcribed into mRNA: messenger ribonucleic
acid
2. mRNA translated into protein

Based on DNA code you can make mRNA or messenger RNA. It goes out of the cell’s nucleus
into the ribosome where it’s being translated into a protein. That's how proteins are made.

,FROM GENOTYPE TO PHENOTYPE
➢ Genetic variation
Genotype: individual’s genetic constitution, overall or at specific gene
• >99% of DNA is similar across humans. All these genes are “fixed” (40% similar to bananas!)
• <1% differs across individuals because of
• Mutations (due to UV, smoke)
• Polymorphisms (inherited)



➢ 1. Mutations in DNA
Mutations cause a permanent change in DNA, you can have for example:
• Base-change
• Deletion of base-segments
• Duplication of base segments
Even whole stretches of DNA can be deleted or duplicated. Deletions or duplications of DNA
stretch (> 1000 nucleotides). Often DNA is repaired but machinery for it is not always reliable.
When DNA is not repaired, it can lead to changes in proteins that are being transcribed.




➢ 2. Polymorphism:
Polymorphisms don't cause major defects in biological functioning. They are multiple frequent
variants of gene in population (transmitted to subsequent generations without causing major
defects in biological functions)

• Variable number of tandem repeats (preset e.g. 3 times) (VNTRs) (all fine)
• Single nucleotide polymorphisms (SNPs) (all fine)

➢ From genotype to phenotype (picture of flowers genetics)
Mendelian inheritance, described in the 19th century about dominant vs. recessive alleles
(=variants of genes). Homozygous (two same alleles from each parent) vs. heterozygous (two
different alleles from each parent).

When it's x-chromosomal, they get a Y chromosome from the father and one of the X
chromosomes from the mother and when the allele which makes the rish for the disease higher
it’s recessive transmission. (lect 1 time 27.30)

, Each cell contains DNA but not for every cell all proteins encoded in the DNA are needed!
Protein production is dynamic & continuously influenced by
various factors, for instance:
1. Interactions of genes (epistasis).
Epistasis: interaction between genes. Allele at one locus
interferes or masks an allele at another locus. Picture: if you
have a gene for baldness, the phenotype would look like the
bottom left picture. Then it doesn't matter what kind of gene
you have for hair color because the outer appearance will be
bald anyway. Allele at bottom row locus will interfere/mask
allele at top row locus.


2. Regulation of gene expression (epigenetics).
Epigenetics: a series of biochemical processes through which changes in gene expression are
achieved throughout the lifecycle of an organism without a change in DNA sequence, i.e. genes
are switched on or off by environmental factors. It’s a continuous process that changes everyday
and through the lifetime. (video on the slides that show how epigenetic process work)

Phenotype (observable characteristics) is dependent on genetic constitution and the expression of
genes. Phenotype = Gene-environment interaction (G x E) Nature + nurture

➢ Epigenome
Epigenome is changeable. It changes during different times in
life (development), e.g embryonic stem cells develop further and
further, therefore, epigenetic memory is required that detects are
added and remain there. This was a single cell that can mature in
different types of cells (e.g. into neuron cells). That is all based
on the same total set of DNA we have in every cell but different
parts of DNA/genes are encode/switched on or off, therefore the
result of the cell’s function is completely different in the end.
Epigenom changes constantly throughout the day because there
are signals that come from inside cell and neighbouring cells
(development of tissue) and also from the exterior (e.g., queen
bee: DNA of bees (worker or queen) is the same but the queen
bee gets a different diet -> therefore she gets much bigger,
develops ovaries and lies eggs)

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