Genetics
Variation within species:
Continuous variation: Traits show a range of values
● Examples: range of values in height & mass
discontinuous variation: Traits are distinct with specific categories
● Examples: being male or female or presence of ear lobes / hitchhiker’s thumb.
Arrangement: Chromosome > genes > DNA
genes:
● Sections of chromosomes/DNA, present on & made from DNA
● Contain information about the development of traits
● Also exist in pairs on chromosomes.
DNA:
● Deoxyribonucleic acid
● Double-helix molecule with coiled strands
● Foundational molecule (material building genes & chromosomes)
● DNA is unique to each individual and can be used for identification purposes
● DNA profile (DNA fingerprint) is made from cells in blood or saliva
● In chromatography, DNA is chopped up by enzymes and its pieces are separated into a gel
● Related people have similar DNA profile
● Genes are made of DNA
chromosomes:
● Organised structures of coiled / compressed DNA containing thousands of tightly packed genes
● Humans = 23 pairs (46 in total)
Scientists:
● Charles Darwin: Proposed hypothesis on inherited pangenesis
● Gregor mendel: Concluded from his experiments that each feature of living organisms is controlled by an
inherited factor and each factor has 2 sets of instructions, 1 passed from each parent, ‘genes’.
● Hugo de vries: Studied darwin’s/mendel's work to conclude inherited characteristics were pangenes
● Willhelm johannsen: Named the inherited pangenes ‘genes’.
● Rosalind franklin: Studied DNA by shooting X-rays at it, suggesting its coiled-strand structure
● James Watson and Francis Crick: Worked out structure of DNA to be ‘double helix’
● Barbara McClintock: Discovered genes on chromosomes change position as parts of DNA break off and move to
other parts of the chromosome, known as ‘jumping genes’
Chromosomes: (reproduction)
● Chromosome Duplication: Before cell division, chromosomes duplicate, align in pairs, and are distributed
evenly to new cells, ensuring the same chromosome count as the parent cell.
● Just before cells divide, long strands of chromosomes appear in the nucleus
● Before cell division, chromosomes duplicate and lie together as two threads
● During cell division, the nucleus divides and each pair of threads separates and enters one of the nuclei
in the new cells
● When the new cells are formed, these threads turn into a chromosome
● The new cell nuclei have the same number of chromosomes as the older ones.
● Chromosomes are arranged in pairs in the nucleus
Formations of gametes:
● Gamete Formation: Chromosomes swap segments, mixing genes, which creates genetic variation.
● Each gamete has half the number of chromosomes as the other body cells
types of chromosomes:
1. Male = XY
2. Female = XX
● 50% chance of X chromosome combining with Y chromosome
● X chromosomes are larger than Y chromosomes
Factors influencing variation
● Natural selection: Organisms with favourable traits survive, reproduce, and pass these traits to offspring,
leading to gradual changes.
● favours individuals with advantageous inherited characteristics, shaping the evolution of species and
contributing to biodiversity.
● Genetic Variation: refers to the differences in DNA sequences among individuals within a population. This
variation is crucial for the survival and adaptability of species.
● Genetic variation provides the raw material for natural selection to act upon, enabling populations to adapt to
changing environments and increase their chances of survival.
● Gene-Environment Interaction: Human traits are shaped by the interaction between genetic predisposition and
environmental influences. Environmental factors can enhance or limit the expression of genetic traits.
● The expression of human traits is influenced by both genetic and environmental factors.
Key theorists:
Charles darwin:
● Formulated ‘theory of natural selection’ suggesting how one species changes into another over a long time
● Discovered mockingbirds on different islands had distinct features and finches showed variation in the size
and shape of their beaks
Comte de buffon:
● Suggested organisms adapted to new environments after spreading geographically.
● Believed plants and animals in the past had developed in one place and then spread out geographically and
responded to different environments by making changes to their bodies
Jean baptiste lamarck:
● Believed organisms adapt over time and pass acquired traits
● Believed species couldn't go extinct; Instead they changed by developing a feature then passing it on to
future generations i.e small antelopes stretched their necks, tongues & legs over time to feed from treetops,
passing these stretched features on to offspring and evolving into giraffes.
● Known as the ‘theory of acquired characteristics’
link between natural selection and adaptation:
● Animals and plants produce more offspring than the number of parents. For example flies lay lots of eggs.
● The size of a plant and animal population in a habitat stays the same but changes in Habitat may cause
change in the population. For example if plants are removed to expose the soil, changes may occur in the number
of plants that grow back in the exposed patch.
● If only a few offspring survive out of a big number, it may be due to struggle for survival over Limited
food supplies etc.
● Individuals within a species vary from each other
● There is competition between variety of individuals in a species and only those who have the best suited
features and adaptations to the environment will go on to dominate the habitat
● Natural selection and genes:
● An organism has a certain combination of genes that help its body develops according to its environment
● If the environment changes, this combination of genes will threaten the individual’s survival, which is why
a feature which is particularly suited to the change in the environment will develop to help the organism
survive. This will increase the organism's chance of breeding and passing on this newly developed feature onto
its offspring.
● Some offspring may also carry genes favourable to the environmental change, passing them on to future
generations. Over time organisms may develop genes so different from the original parent population that they
might form a new species.
Important terms
● Species: Classification of living things into groups when compared through a classification system.
● characteristics: Observable features in living organisms.
● Inheritance: Passing on of genes from one generation to another
● Gametes: Sex cells containing half the number of chromosomes of the parent
● Zygote: Stage before the embryo formation (male + female gamete fusion)