Genes & Environment LecNot

LECTURE 1

Impact of learning one’s DNA  could make one more pessimistic about one’s elevated risk of a
mental disorder thereby increasing possible chance of developing their disorder

Historical perspective

- Ancient world  parents pass them on

o Pythagoras  father supplies essential characteristics and mother supplies the
material building blocks
o Aristotle  children were made from “purified blood from the balls”
- Theory of preformationist
o We call come from miniature versions of ourselves, sperm contains individuals called
homunculus
- Galton
o Founded psychometrics, differential psychology, behavioural genetics, He studied
twins & family trees (pedigree)
o Eminent status was more likely to appear in close relatives, with degree of eminence
decreasing as the relationship became more remote
o Founder of eugenics
- Darwin
o Theory of evolution, all species arose through the
natural selection of small, inherited variations that
increase the individuals ability to survive and
reproduce
o Idea of blending inheritance
 Darwin theory of pangenesis
 Contributions to egg or sperm
from every part of the body, also
implied blending inheritance

LECTURE 2

Gregor Mendel

- Did experiments with pea

plants
- Cross bred wrinkle and
smooth seeds
-
o F1 characteristics
dominant over
the wrinkled
characteristics
- MENDEL’s FIRST LAW  Law of segregation
o There are two elements of heredity, for each trait
in each individual
 Difference to previous ones, you pass
down everything
o These two elements separate or segregate during
reproduction
o Offspring receive one of the two elements from
each parents
- Punnett Square
o Diagram used to predict the genotypes of a cross
or breeding experiment, useful to determine a
probability of an offspring having a particular
genotype
o

- Dominant Allele (expressed with upper case letter)

o Expresses it’s phenotypic effect even when heterozygous with a recessive allele. So,
if S is dominant over s, then SS and Ss have the same phenotype
- Recessive Allele (lower case letter)
o Phenotype effect is not expressed in a heterozygote, it is only expressed when
homozygous, like if s is recessive over S, only ss would show the recessive phenotype
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-
- Inheritance of each trait is separate from the other

MENDEL’s SECOND LAW  The Law of

Independent Assortment

- The inheritance pattern of one trait

will not affect the inheritance pattern
of another

Terminology

- Gene  basic unit of inheritance

- Allele  alternative variants of gene
- Genotype  combination of alleles at
a region/gene
- Phenotype  observed trait in an
organism
- Homozygosity  2 the same alleles at a locus
- Heterozygosity  2 different alleles at a locus
 - Chromosome  physical unit of inheritance
- Genome  all DNA sequences of an organism

Mendelian Disorders  single gene mutations leading to a disorder

- Huntington Disease
o Brain disorders causing
progressive atrophy of
nerve cells in the brain
o Leads to severe
incapacitation and
eventual death
o It usually affects adults
(30-45 yr old)
- Phenylketonuria
o PKU is a metabolic
disorder caused by a deficiency of the liver enzyme PAH
o Prevents normal metabolization of PHe which is present in protein rich foods
o Damage occurs to the nervous system leading to mental retardation

o
- Scurvy
o Is caused by a single gene, however is not considered a genetic disorder
 BECAUSE  there is NO genetic variance in humans, everyone has the gene
 Both PKU and scurvy are disorders treated by diet, however only in PKU it
makes sense to talk about mendelian disorder

Exceptions to Mendel’s Second Law

- The law holds for:
o For genes on different chromosomes
o For genes that are far apart of the same chromosome
- The law DOES NOT hold for
o Genes in close proximity on the same chromosome

-
o So if genes have traits in close proximity, then the traits will NOT be passed down
independently (there will be a bias in the Punnett square)
- X-linked inheritance  sex dependent transmission
o Color blindness

o
o
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LECTURE 3

- Proteins = do just about any action in your body

-
 - DNA + RNA Structure
o

Polynucleotide

-
- DNA = Deoxyribonucleic acid
- RNA = Ribonucleic acid (Ribo = sugar)

Pairing of two DNA strands through hydrogen bonding

- This occurs between A-R or G-C

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The Central Dogma of Molecular Biology

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o x

Difference between RNA & DNA

- Deoxyribose vs ribose
- Thymine vs uracil
- Double-stranded vs single stranded
- RNA molecules are much shorter than DNA molecules
o Rarely more than a few thousand nucleotides
- DNA is WAY more stable (by design)
- RNA life is really short (also by design)
RNA Processing

-
o Coding RNA  transcripts of protein coding genes, will be translated into protein
(only 4% of RNA)
o Non-coding RNA  number of different functions performed by the RNA molecule
itself.
 Example: transfer RNA & ribosomal RNA
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