Definitions

 Traits: characteristics passed from parent to offspring

 Homologous chromosomes: a pair of chromosomes of the same
length and same sequence of genes (except sex chromosomes)
 Gene: a segment of DNA that contains genetic information to code
for a polypeptide
 Allele: an alternative form of a gene that occupy the same relative
locus on a pair of homologous chromosomes
 Dominant allele: allele that is expressed in both heterozygous and
homozygous conditions
 Recessive allele: allele that is expressed in only homozygous
conditions
 Homozygous: the alleles controlling a trait are the same
 Heterozygous: the alleles controlling a trait are different
 Phenotype: the outward expression of a trait
 Genotype: the genetic make-up of an organism, represented by
alleles
 Monohybrid inheritance: only one characteristic (controlled by
alleles on a single gene locus) is studied at a time

Mendel’s laws of Inheritance

 Law of segregation
o During meiosis I, homologous chromosomes separate → each
gamete receives only one of each pair of homologous
chromosomes
 Law of independent assortment
o During gamete production → segregation of a pair of alleles is
independent to that of other pairs of alleles

Genetic Cross Diagram

 Parents’ Phenotype
 Parents’ Genotype
 Parents’ Gametes (circled)
 Cross Working
 Offspring’s Genotype
 Offspring’s Phenotype
 Phenotypic Ratio

Test Cross
 When we want to determine if the alleles controlling a dominant
phenotype are homozygous dominant (i.e. AA) or heterozygous (i.e.
Aa)
 Cross the organism of interest with an organism that is homozygous
recessive

 Drawbacks
o Small sample size will result in inaccurate ratios  large
sample size will result in more accurate ratios
 o Ratios are based on chance and probability  actual numbers
are unlikely to match the ratios precisely

Codominance
 Both alleles are fully expressed in the phenotype of the
heterozygote  resultant phenotype is different from that of a
homozygote

Multiple Alleles (ABO blood type)

 ABO blood type in humans is controlled by multiple alleles
 Gene determine the type of antigens present on the red blood cells
of an individual
 Type of blood = type of polypeptide present on surface of red blood
cells

Alleles for Blood type

 IO  No antigen
 IA  Antigen A
 IB  Antigen B
 IA and IB are codominant
 IO is recessive to both IA and IB

Blood type - Phenotype and Genotype

 Blood type A
o IA IO
o IA IA
 Blood type B
o IB IO
o IB IB
 Blood type O
o IO IO
 Blood type AB
o IA IB

Sex determination
 Determined by sex chromosomes
o Male: XY
o Female: XX
 Genes are found on the sex chromosomes and some traits are sex-
linked
o Haemophilia, Colour-blindness (X-linked recessive condition)
o Male pattern baldness (Y-linked recessive condition)

Variations
 Used to refer to the difference in traits between individuals of the
same species
 Discontinuous variation
o Clear-cut phenotypes
 o No intermediate forms
o Unaffected by environmental factors
o Genes do not show additive effect
 Continuous variation
o No clear-cut phenotypes
o Many intermediate forms
o Gens show additive effect
o Affected by environmental factors

Mutations
 Spontaneous change in gene structure or chromosome (genetic
mutation), or change chromosome number (chromosomal mutation)
 May be inheritable
 May be harmful or fatal to organisms; can also be beneficial
 Somatic Mutations → Mutations in body cell
o Not passed to next generation
o May be responsible for cancer
 Mutations during gamete production
o Inherited by offspring

Chromosome Mutation - Down Syndrome

 Extra copy of chromosome 21, 47 chromosomes instead of usual 46
 Higher risk of down syndrome associated with higher age of the
mother
 Caused by non-disjunction during gamete production  failure to
separate of either homologous chromosomes in anaphase I or of
sister chromatids in anaphase II

Gene Mutation
 Produces variation among individuals → results in new alleles of
genes
 Dominant mutations → easily detected
 Recessive mutations → may not be detectable for generations

Gene Mutation – Albinism

 Mutation in genes coding for melanin production
 Absence of pigments in skin, hair, eyes
 Very sensitive to sunlight

Gene Mutation - Sickle Cell Anaemia

 Mutation in gene coding for haemoglobin production
 Inherited in autosomal recessive pattern (not sex-linked)
 Produce HbS instead of HbA (normal)
 Difference in one amino acid
 HbS molecules clump together → RBC becomes sickle shaped
o Reduces oxygen transport efficiency
o RBCs more fragile → break apart easily, blocking blood vessels
  Sickle shaped RBCs last for 10 to 20 days → lower blood count →
anaemia

Haemoglobin Genotypes
 HbAHbA
o Normal haemoglobin dissolves in cytosol
o No effect and symptoms
 HbAHbS
o Normal haemoglobin with some sickle cell haemoglobin
clumping in long rods
 HbSHbS
o Sickle cell haemoglobin clumping in long rods
o Pain and organ damage ; usually die at young age

Factors causing mutations

 Exposure to mutagens
o Mustard gas
o Formaldehyde
o Ferrous oxide
o Lysergic acid diethylamide

Pedigree Analysis - General Rules

 Determine whether disease shown is
o Autosomal
 Equal frequency (chance) of both genders being
affected
o Sex-linked
 Significantly more of one gender being affected relative
to other gender
 Determine whether disease shown is
o Recessive
 Neither parent needs to have the disease
o Dominant
 Two parents can have normal child

Darwin’s theory
 Descent with modification
o All organisms originated from an organism from the remote
past
 Natural Selection
Factors resulting in competition
 Amount of food and water available
 Breeding space available
 Mineral salts, light and water available (for plants)

Modern theory of evolution

 Variation caused by spontaneous mutation
 Nature selects organisms with favourable traits to survive (selective
advantage)
 Organisms are able to survive and reproduce
 Pass on favourable traits to offspring
 Ensure survival of species in changing environmental conditions
 Evolution of population
o Within a population, over many generations, the proportion of
individuals possessing the advantageous traits increases with
time

Malaria + Sickle cell Anaemia

 HbAHbA
o Phenotype: Normal
o Protected against sickle cell anaemia but dies from malarial
infection
 HbAHbS
o Phenotype: Partial sickle-cell anaemia
o Protected against malarial infection and has sufficient normal
haemoglobin for oxygen transport
o Able to survive and reproduce in malaria-affected areas
whereas homozygous have a greater risk of dying →
heterozygote advantage
 HbSHbS
o Phenotype: Sickle-cell anaemia
o Less susceptible to malarial infection but dies of sickle-cell
anaemia

Artificial selection
 Non-random selective breeding process by deliberate human action
 Only individuals with desirable traits are selected for breeding
 Fast and rapid process

Selective breeding
 Identify individuals with desirable traits → use them to parent next
generation
 o Inbreeding
 Breeding of closely-related individuals
 Advantages
 Maintains desirable characteristics
 Disadvantages
 Accumulation of recessive alleles
 Recessive alleles unexpressed in heterozygous
parents more likely to be passed down
 Loss of vigour
o Lack of diversity
o Reduced fertility
o Outbreeding
 Breeding unrelated individuals/individuals of genetically
distant populations → hybrids
 Advantages
 Hybrids have characteristics that are superior to
that of either parent → hybrid vigour

Selective breeding in plants

 To maintain new hybrid of plant → cultivate plants by vegetative
propagation or repeat hybridisation process
 Hybrids to not breed true

Selective breeding in animals

 To maintain new variety of cattle → inbreeding

Artificial selection vs. Natural selection

 Artificial Selection
o Man selects the variety of organisms that suit his needs
o Varieties produced by selective breeding and genetic
engineering
 Natural Selection
o Selection occurs when natural environmental conditions
change
o Varieties produced by random mutations

Genetic Engineering
 Technique used to transfer genes from one organism to another
 Purpose : to remove a desired gene and transfer it to another
organism where it can be expressed
 Involves a vector → carrier DNA molecule into which the desired
gene can be inserted
o Plasmid (circular DNA found in bacteria)

Process of genetically engineered human insulin

 Insulin → important hormone secreted by pancreas to maintain
blood glucose concentrations
 Diabetes mellitus → fail to produce insulin
 Genetic engineering → insulin produced in large quantities
  Human insulin gene transferred into E.coli cells
o Form transgenic organism → organism containing foreign gene

Steps in process
 Gene for producing insulin is isolated from human chromosome
 Gene is cut using a restriction enzyme to produce gene segment
with sticky ends
 Plasmid is removed from E. coli
 Plasmid is cut using the same restriction enzyme to produce sticky
ends that are complementary to those of the gene segment
 Plasmid is mixed with gene segment
 Fragments bond due to complementary base pairing
 DNA ligase added to join fragments up
 Plasmid is mixed with E. coli
 Temporary heat/electric shock is applied to create temporary pores
in the cell surface membrane to allow plasmid to be taken up into
bacterium cell
 Transgenic bacteria make copies of the recombinant as it multiplies
 Transgenic bacteria produce insulin
 Transgenic bacteria can be isolated cultivated in a fermenter for
largescale production
 Bacteria is harvested and lysed to release insulin
 Insulin is purified and chemically modified before use

Transfer of genes between species

 Usage of plasmid from agrobacterium in plants
 Agrobacterium mixed with plant cells → plasmid DNA transferred
into plant chromosome

Gene therapy
 Application of genetic engineering to replace or change the
defective gene in humans
 By replacing defective genes with normal genes → body can
synthesise normal proteins/enzymes
Genetic engineering vs. Selective breeding
 Species
o Genetic engineering : can be carried out between non-
related or different species
o Selective breeding : must be bred between closely related
or same species
 Defective genes
o Genetic engineering : reduce chance of passing defective
genes to next generation
o Selective breeding : may be passed to next generation
 Time
o Genetic engineering : fast process as individual cells
reproduce rapidly
o Selective breeding : slow process as breeding requires several
generations
 Efficiency
o Genetic engineering : more efficient as transgenic organisms
grow faster
o Selective breeding : less efficient as organisms grow slower

Implications of genetic engineering – Advantages

 Social
o Alleviate starvation and malnutrition and provide sustainable
source of food for the world
 Golden rice alleviate Vitamin A deficiency
 Health
o Modify food to have more essential vitamins
 Golden rice high in Vitamin A
o Genetic engineering of important drugs
 Human Insulin→ affordability
o Possible gene therapy
 Treatment of chronic illnesses like diabetes and cystic
fibrosis
 Environment
o Reduced usage of costly, environment-damaging pesticide
 Bt gene inserted into plants → toxin produced
o Phytoremediation
 Poplar trees engineered to clean heavy soil pollution
 Economic
o Production of crops that grow in extreme conditions
 Salt-tolerant, drought-resistant → reap more profits
o Increase shelf life and profits
 GM tomatoes do not ripen as quickly + resilient to
damage during handling and transportation →
prolonged shelf life + more harvest on shelves
o Pest and weed resistant crops
 Higher yield per unit area of land → profit
o Decrease in pesticide and herbicide usage
  Cut costs
o Easier management of crops
 Less labour intensive
 Less time-consuming

Implications of genetic engineering – Disadvantages

 Social
o (Religious) GMO distorts the nature of life that God intended
→ rising tension between organisations
o Blurs lines between species
 Animal genes incorporated into plants
 Rearing of GM pigs and harvesting their organs for
human transplant
o Increase gap between rich and poor
 Only the rich can afford expensive gene therapies
 Health
o Allergenic traits able to be transferred between organisms by
GMOs
 GM soybean contains genes from Brazil nuts → may
induce allergy reactions for those allergic to nuts
o Production of new toxins
 Some plants may have inactive toxin production
pathways → GE can reactivate such pathways →
increase toxins in crops
 Environment
o Displacement/Extinction of natural species
 GM salmon (Aqua Advantage Salmon) may be interbred
with wild salmon if they escaped → larger varieties that
outcompete the others → extinction of natural salmon
species
 GM crops invasive to native plants as they are more
pest-resistant → GM crops become weeds
 Emergence of superweeds when GM plants cross
pollinate wild relatives nearby → wild species get new
trait → herbicides no longer effective
o Loss of biodiversity
 Farmers select most productive, resistant and superior
varieties of crops → diminish diversity of crops
cultivated
 Loss of pests due to Bt toxin crops → upset food chain
due to less food for consumers at higher trophic levels
 Economic
o Business dependency on large companies
 Companies developing GM organisms patent technology
to cover huge research costs
 Monsanto creates seeds that produce infertile crops
using suicide gene → farmers have to keep buying
o Widen income gap
  Enable harvest of tropical fruits in temperate regions →
aggravate income gap between north and south and
decrease export opportunities
o GMO development requires high investment
 In research and technology → less developed countries
lack such resources although they most require it
o GM organisms enable larger farming companies to profit
 Small farmers unable to benefit
 Wealth from agriculture concentrated towards large
companies → widen income gap → enable GMO
companies to have greater control over industry