GE Book Notes

CHAPTER 3: Mendel

Mendel’s First Law of Heredity  Law of Segregation

- Two elements of heredity for each trait in each individual

o These segregate during reproduction and offspring receives 1 of 2 from each parent
- One of these two can dominate the other
o If ONE dominant trait is passed down  they will display that trait
- Only if both traits are recessive then they will display
- This law explains inheritance of Huntington’s disease
o Affected ppl have one dominant allele and one recessive, unaffected have two
recessive

o
- PKU due to the presence of TWO recessive alleles
o Only one copy of the allele  carriers as they can pass it down to next generation
o If both parents have PKU allele then 25% chance of offspring having PKU
o

Mendel’s Second Law of Heredity  Law of independent assortment

- Alleles for two genes assort independently

o Inheritance of one gene does not influence the inheritance of another gene
- Genes are carried in chromosomes
o Eggs contain one chromosome from the mother pair and sperm contains one
chromosome from the father pair
o A fertilized egg has 23 chromosome pairs
- Mendel’s law is violated when genes for the two traits are close together on the same
chromosome
o If a pair of genes violates mendel’s 2nd law then they must be inherited together on
the same chromosome
o This is called = LINKAGE
 They must ALSO be close together on the same chromosome
o RECOMBINATION
 If genes are near each other on the same chromosome, they will recombine
by a process in which chromosomes exchange parts
 This occurs during meiosis  where gametes are produced
 - Maternal chromosome = WHITE // Paternal chromosome = BLUE
- CHROMATIDS
o Chromosomes duplicate during meiosis to form sister chromatids, the chromatids
may cross over at this point
o Closer together the loci is, the more likely for crossover to occur
o distance between two chromosomes can be estimated by number of
recombinations per 100 gametes
 = CENTIMORGANS
- Linkage analysis
o Identify the location of gene on a particular chromosome
 Uses information which violates the law of independent assortment
- Once a gene has been found then:
o DNA variation responsible for disorder can be identified
o DNA test can then be used to diagnose the disorder

Quantitative Genetics

- Multiple-gene effects lead to quantitative traits

 - Psychological traits are often complex patterns of combinations of genes
- Multiple gene model accounts for the resemblance of
relatives
o If genetic factors affect a quantitative trait 
phenotypic resemblance of relatives should
increase with increasing degrees of genetic
relatedness

X-Linked Traits

- Genes on the X chromosome

o One pair of chromosomes = SEX chromosome
 This differs for males and females  females have two X chromosomes //
males have one X chromosome and Y chromosome
o RG colour blindness is specifically caused by a recessive allele on the X chromosome
 But males only have one X chromosome  if they have one allele for colour
blindness = colour blind
 For females to be colourblind they would need to inherit two recessive
genes on their X chromosome

CHAPTER 4: Heredity

- DNA is molecule responsible for heredity

o Deoxyribonucleic acid
- DNA consists of two strands that are held apart by four bases:
o Adenine, Thymine, Guanine, Cytosine
o Adenine always pairs with Thymine // Guanine with Cytosine
- Backbone of each strand consis of sugar and phosphate molecules
- Strands coil around each other to create a double helix of DNA
- The specific pairing allows DNA to carry out its 2 functions:
o Replication + synthesis of proteins
- Replication occurs during cell division
o DNA molecule unzips  separating the paired bases
o Two strands unwind, each strand attracts the appropriate bases to construct its
complement
o Two complete double helices of DNA are created where there was previously one
- Second major function: direct synthesis of new proteins according to genetic information
-
- = CENTRAL DOGMA OF MOLECULAR GENETICS
o DNA to RNA to Protein
o Protein coding segments are few thousand to several million DNA base pairs in
length
o 2 basic steps
 Transcription of DNA into a different sort of nucleic acid (RNA)
 Translation of RNA into proteins

o
- Messenger RNA
o Genetic code in the sequence of DNA bases  then translated via mRNA to amine
acid sequences
o Code consists of various sequences of 3 bases = codons
 3 adenines in a row (AAA) will be transcribed to 3 uracils (UUU)
 There are 64 possible triplet codons, but only 20 amino acids
 Any particular 3 codons signals the end of a transcribed sequence
o Transcription
 Sequence of bases in one strand of DNA is copied to mRNA (A pairs with U
instead of T)
 mRNA leaves the nucleus and enters the cell body where it connects with
ribosomes
  ribosomes = factories where proteins are built
 Second step  translation of the mRNA into amino acid sequences that
form proteins
 tRNA (transfer RNA) transfers the amino acids to the ribosomes
 each tRNA is specific to 1 of the 20 amino acids
 tRNA molecules, attached with specific amino acids, pair up with the mRNA
in a sequence dictated by the base mRNA as the ribosome moves along the
mRNA strand
- Human set of DNA sequences (genome) consists of 3 billion base pairs
o 20K protein coding genes, ranging in size from 1000 bases to 2 million bases
o Chromosomal location of most genes are known
o A third of our protein coding genes are expressed only in the brain  likely to
influence behaviour
o Genes are denominated with 4 letters (A, T, C, G) with 3 letter words (codons)
organized in 23 volumes (chromosomes)
- Alternative splicing
o mRNA is spliced to create different transcripts which are translated to different
proteins

Chromosomes

- Linkage mapping has allowed for the detection of DNA markers related to diseases
- We have 23 pairs of chromosomes
o Varies widely from species to species
o One pair is the sex chromosome X and Y (females: XX // Males: XY)
o All others are called autosomes
- They have a characteristic banding pattern, function of the bands is not known but is used to
identify chromosomes
- Centromere  region in a chromosome without genes, where the chromosome is attached
to the new copy when cells reproduce
- Short arm = p and long arm = q
- Provide the basis for gene mapping
o Important in behavioural genetics  mistakes in copying during cell division affects
behaviour
- Mitosis  normal cell division, occur in all cells that produce gametes, somatic cells
- Meiosis  cell division during gamete formation, occurs in the sex cells (of ovaries/testes) to
produce eggs and sperm which both only have one member of each chromosome pair
o Each sperm and egg have 1 of over 8 million possible chromosome combinations
o Recombination occurs once per meiosis  creates more genetic variability
o When sperm fertilizes an egg  creates a zygote
- Nondisjunction  common copying error for chromosomes = uneven split of the pairs
during meiosis
o Down syndrome is caused by nondisjunction
- Breaks in chromosomes can lead to: deletion, inversion, chromosomal abnormality
o Most of these result in early spontaneous abortions (miscarriages)
o At 1 in 250 babies have an obvious chromosomal abnormality
o Nearly all chromosomal abnormalities affect cognition
 - Missing a chromosome (apart from X and Y) or having an extra chromosome is lethal (apart
from smallest one or X)
o Half of all chromosomal abnormalities that exist in new-borns, exist in sex
chromosomes
o In females one of the two X chromosomes in inactivated (therefore most of the
genes are not transcribed)
o In M/F with extra X chromosome the extra X is also inactivated

CHAPTER 6: Nature, Nurture & Behaviour

Quantitative genetics  examines the extent to which observed differences among individuals are
due to genetic differences of any sort and to environmental differences

Adoption Designs

- Many behaviours “run in families”, however can be due to nature or nurture or both
- Adoption = sets of genetically related individuals who do not share a common family
environment because they were adopted apart
o Their similarity estimates the contribution of genetics
- Adoption also creates genetically different family members but with the same family
environment
o Similarity due to the family environment
- Environmental influence due to postnatal environment measured in environmental parents
o However there is still prenatal environmental influence due to birth parent

-
- Genetic siblings  full siblings adopted apart early in life and reared in different homes
- Environmental siblings  siblings from different biological parents
- Adoption studies often yield evidence for
genetic influence on behavioural traits
o Results depend on trait examined and
age of adopted child
o Studies of infants and toddlers
examining behavioural outcomes 
FEW main effects of genetics
 Although there is evidence for
gene-environment interplay
o When studied later in childhood for
traits like cognitive ability  genetic
factors appear to be important
  Genetics account for 50% variation
- One of the biggest surprises:
o Resemblance between relatives is accounted for by shared heredity rather than
shared environment!!
- Issues in Adoption Studies:
o Representativeness  the generalizability is low as it is hard to use sample similar to
the population
o Prenatal environment
o Selective placement  places adopted apart “genetic” relatives in correlated
environment. Genetic influence could be inflated by environmental effects

Twin Design

- Identical Twins  MZ = Monozygotic

o Derive from one fertilized egg (zygote)
o If genetic factors are important  they are more similar than first degree relatives
- Fraternal Twins  DZ = Dizygotic
o Derive from two separate fertilized eggs
 50% similar genetically
- Twin studies focus on same sex fraternal twin pairs  therefore always same sex
comparison
o How can you tell if they are fraternal twins  DNA markers
o Also traits such as eye colour, hair colour, hair texture can be used
- If a trait is genetically influenced, identical twins must be more similar than fraternal twins
- Equal environments assumption:
o Assumes that environmentally caused similarity is roughly the same for both types
of twins reared in the same family.
- Prenatally:
o Identical twins experience greater environmental differences than fraternal twins
 MZ twins show greater birthweight differences  may be due to prenatal
competition
o Twin method will underestimate heritability  identical twins experience less
similar environments
- Postnatally:
o Effect of labelling a twin pair as identical or fraternal has been studied by using twins
who were misclassified
 Twins are as similar when mislabelled than when not
- Issues with the Equal Environments Assumptions
o Identical twins might have more similar experiences than fraternal twins due to
genetic similarity
- Difficulties in generalizability in Twin Studies
o Growth differences between twins and singletons
 Brain development  language develops more slowly in twins

Combination of Twin Design & Adoption Design

- Useful to use non-twin siblings in the twin studies design

- Adoption-twin design:
o Twins adopted apart and compares them with twins reared together
 o Identical twins reared apart from early life  are almost as similar in cognitive
ability as identical twins reared together

CHAPTER 7: Estimating Genetic and Environmental Influence

Heritability

 Is the proportion of phenotypic variance that can be accounted for by genetic differences
among individuals
- Can be estimate