MODULE 5: HEREDITY

1: Reproduction - How does reproduction ensure the continuity of

a species?
 Mechanisms of reproduction that ensure the continuity of a species
o Animals (advantages of external and internal fertilisation)

Internal External
Performed by Terrestrial plants, birds, Marine organisms (fish,
mammals, reptiles sponges, amphibians)
Gametes produced Many male, few female Millions
Fertilisation chance High Low
Frequency More frequent Less frequent
Environment Water body, vulnerable to Female body/eggs, safe until
external conditions birth
Advantages Higher fertilisation chance, Many offspring produced,
offspring protected rapid colonisation, simpler and
faster
o Plants (asexual and sexual reproduction)

How it is performed
Asexual
Runners (outgrowth stem ->
new plant), budding, spores,
etc.
Sexual
Pollen lands on stigma, goes
through pollen tube to ovary,
fertilises ova. Can be self-
pollinated or cross-pollinated.

Cell division Mitosis Meiosis

Offspring Genetically identical to each Combination of info from
other and parent parents
Parents needed One Two
Advantages Quickly produces many More variation
offspring
Disadvantages Less variation—more risk Complex, takes more time and
under environmental change energy

o Fungi (budding, spores): Fungi can release spores, single cells produced by
mitosis that can grow into a new fungus. They can also produce a replica of
itself (via mitosis) that grows as a new organism, attached to the parent.
o Bacteria (binary fission): This is when bacteria undergoes mitosis and splits
into two new organisms.
o Protists (binary fission, budding): See above. Protists are usually
algae/fungi.
  Features of fertilisation, implantation and hormonal control of pregnancy
and birth in mammals
o Fertilisation: Meiosis is undergone in the gonads, producing gametes (female:
ovum, male: sperm). The male deposits sperm into the female reproductive
system, where it travels into the oviduct, where fertilisation occurs. When that
happens, the two gametes fuse to have 46 chromosomes. It becomes a zygote,
which grows by mitosis as it travels to the uterus.
o Implantation: The zygote travels into the uterus and implants into its wall.
The blastocyst (zygote’s outer layers) grow into the endometrium (uterus
lining), which handles nutrition and waste for the first 2-4 weeks until the
placenta forms.
o Hormonal control of pregnancy and birth:
 Luteinising hormone: Triggers ovulation and development of corpus
luteum.
 Oestrogen: Main female sex hormone, triggers ovulation (release of
egg from ovary). Maintains and stimulates production of other
hormones, e.g. oxytocin.
 Human chorionic gonadotrophin: Released during implantation ->
keep the corpus luteum active -> ensure adequate progesterone ->
maintain endometrium.
 Progesterone: Released by corpus luteum during implantation/first
trimester to maintain endometrium, then by the placenta to prevent
contractions and miscarriage.
 Oxytocin: Released towards end of third trimester to stimulate
contractions, then milk production.
 Prolactin: Released during third trimester to stimulate lactation.
o Other pregnancy terms: Gestation (development of offspring in uterus), oocyte
(ovary cell, becomes ovum through meiosis), trimester (3 months).

 Impact of scientific knowledge on the manipulation of plant and animal

reproduction in agriculture
Reproductive Definition/example Advantage Disadvantage
technology
Artificial Inserting semen from a selected Can inseminate Reduces genetic
insemination male into a selected female of many females from variation ->
same species. one male, transport susceptibility to
E.g. used in cattle, sheep, race is easier and more environmental change
horses. cost effective, can
be used in
conservation.
Artificial Dusting of pollen onto female Simple and Decreases genetic
pollination stigmas. inexpensive, variation,
 E.g. Mendel’s pea plants, consistency in monocultures increase
modern agriculture. growth rates/food risk of disease/pests
quality, can create
new varieties and
increase genetic
diversity (short-
term)
Whole- Producing a genetically Organisms with Expensive with
organism identical organism without desired limited advantages,
cloning sexual reproduction. characteristics raises ethical issues,
E.g. plants: cuttings, graftings produced, poses health issues to
E.g. animals: Dolly the sheep, predictable animals, reduces
somatic cell nuclear transfer growth/yield, genetic diversity
(put body cell nucleus in conservation. (identical plants are all
enuculeated egg cell, implant susceptible to the
into surrogate mother). same things).

2: Cell Replication - How important is it for genetic material to be

replicated exactly?
 Processes involved in cell replication
o Mitosis and Meiosis
Mitosis
1 division, produces two daughter cells
Daughter cells are identical to parent and each
other
Number of chromosomes maintained
Occurs in asexual reproduction and in growth
and repair
Meiosis
2 divisions, produces 4 gametes (sex cells)
Gametes are all different to each other
Number of chromosomes halved
Occurs to make gametes for sexual
reproduction
Meiosis 1: Interphase (diploid, chromatids are joined at centrometre) -> P1 (chromosomes
condense, homologous chromosomes form bivalents, crossing over occurs and genetic
material is exchanged) -> M1 (spindle fibres align bivalents at centre) -> A1 (bivalents are
split, chromosomes move to opposite poles) -> T1 (cell divides into two haploid daughter
cells, nuclear membrane reforms)
Meiosis 2: P2 (chromosomes condense, nuclear membrane dissolves, centrosomes move to
opposite poles) -> M2 (spindle fibres align chromosomes) -> A2 (sister chromatids separate
and move to opposite poles) -> T2 (chromosomes decondense, nuclear membrane reforms,
cells divide into four haploid daughter cells)
Mitosis: Interphase (chromatids joined at centrometre to form chromosome) -> Prophase
(chromosomes condense, nuclear membrane dissolves) -> Metaphase (bivalents lined up at
centre by spindle fibres) -> Anaphase (chromosomes pulled apart and become chromatids) ->
Telophase (nuclear membrane reforms) -> Cytokinesis (cytoplasm divides, two diploid
daughter cells are made)
o DNA replication using the Watson and Crick DNA model (incl. nucleotide
composition, pairing and bonding)
 Nucleotide composition: DNA stands for deoxyribonucleic acid. It is
a double helix, a twisted ladder. DNA is made up of nucleotides, each
containing a sugar, a phosphate and a base. The sugar and phosphate
make up the backbone and the base pairs the rungs.

 Pairing: DNA is made up of four nitrogen bases, held together by

hydrogen bonds. Adenine and Cytosine always pair, and Guanine and
Thymine always pair.
 DNA replication: Both strands of a DNA molecule are mirror images
of each other. The molecule is untwisted and ‘unzipped’ by enzymes,
breaking the hydrogen bonds and forming a leading and a lagging
strand. Enzymes connect nucleotides with complementary bases on the
original strands to form two identical DNA strands.
The leading strand is synthesised continuously (no breaks) in the
direction of the replication fork (where the strands separate). The
lagging strand is synthesised discontinuously (in fragments) in the
opposite direction by Okazaki fragments.
DNA replication occurs during interphase of meiosis and mitosis.

 Effect of the cell replication process on the continuity of a species

o DNA replication allows cells to be replicated through meiosis and mitosis,
which are essential processes in reproduction, as mitosis allows simpler
organisms such as bacteria to multiply through asexual reproduction, while
 meiosis creates gametes which allow sexual reproduction. So cell replication
is essential to species continuity by allowing asexual and sexual reproduction.

3: DNA and Polypeptide Synthesis - Why is polypeptide synthesis

important?
 Compare the forms in which DNA exists in eukaryotes and prokaryotes
Prokaryotic Eukaryotic
Found freely in cytoplasm Found in nucleus
Naked (doesn’t bond w/ protein) Bound to histone proteins for
strength/stability
Compact genomes (little repetitive Genomes have lots of non-coding +
DNA) repetitive DNA
Contains plasmids (DNA molecule No plasmids
separate of chromosomal DNA)
Circular Linear

 Model the process of polypeptide synthesis

o Transcription and translation
 Transcription: After DNA unzips, a gene’s DNA sequence is copied
(transcribed) to make an RNA molecule. The enzyme RNA
polymerase builds an mRNA molecule by pairing nucleotides with
complementary bases on the non-coding strand (template strand)
The info is transcribed in codons/triplets (groups of three bases). The
mRNA strand is the same as the coding strand except uracil replaces
thymine.
The molecule begins to move away and transcription ends when the
enzyme reaches a stop codon. The introns (segment of a gene that
doesn’t code for proteins) are removed, leaving the exons (codes for
proteins/polypeptides). The mRNA then moves out of the nucleus and
onto a ribosome.
 Translation: The ribosomes move along the mRNA, attaching tRNA
molecules by temporarily pairing anticodons (correspond to codons)
with corresponding codons, while another enzyme makes peptide
bonds between the amino acids (1 codon = 1 amino acid). The tRNA
breaks off, leaving the chain of amino acids—a polypeptide. The
polypeptide may be joined by others, then it is folded into its shape to
form a protein.

o Importance of mRNA and tRNA in transcription and translation

 mRNA is important to convey genetic information from DNA, serving as a
messenger and specifying the amino acid sequence of the DNA.
tRNA is important as it decodes an mRNA sequence into a polypeptide chain
and then a protein.
o Function and importance of polypeptide synthesis
Polypeptide synthesis forms polypeptides that fold to form proteins. Proteins
have many essential roles within our cells. See ‘structure and function of
proteins in living things).
o Assess how genes and environment affect phenotypic expression
Characteristics are determined by genes (by directly coding for certain
characteristics and features, e.g. eye colour) and the environment, depending
on its various features that affect the organism, such as food and water
availability. E.g. two plants growing in environments with different quantities
of sunlight, moisture, and nutrients will result in different growth rates and
yield.
Examples: The Himalayan Rabbit (low temperatures->black fur, high
temperatures->brown fur), the water buttercup (leaves above the water are
broad and lobed, leaves under the water are thin and finely divides)

 Structure and function of proteins in living things

o Primary structure: Chain of amino acids
o Secondary structure: Folded polypeptide -> forms structural proteins (bone,
muscle, etc.)
o Tertiary structure: Complex, 3D shape -> forms hormones (chemical
messengers) and enzymes (catalyse chemical reactions)
o Quaternary structure: Made of 2+ polypeptides -> form haemoglobin (carries
oxygen)
4: Genetic Variation - How can the genetic similarities and
differences within and between species compared?
 Conduct practical investigations to predict variations in the genotype by
modelling meiosis, incl. the crossing over of homologous chromosomes,
fertilisation and mutations
o Homologous chromosomes/alleles: Chromosomes come in pairs (one from
father, one from mother) called homologous pairs, containing equivalent sets
of genes, allowing different alleles (alternate forms of a characteristic) to exist.
One allele is often recessive while one is dominant, and the dominant one is
usually expressed over the recessive one. (e.g. in Tt, T will be expressed)
Mendel’s pea plant experiments produced this model of inheritance.
o Fertilisation: When sex cells (haploid number: 23 chromosomes each) fuse,
they create a zygote (diploid number: 46 chromosomes). Homologous
chromosomes line up and separate at random during meiosis, meaning that
there are many possible gametes. Each gamete gets one of the four chromatids
shown below. Each gamete also represents an allele.
o Crossing over: Occurs during prophase 1 of meiosis when homologous
chromosomes pair up. Maternal and paternal chromosomes of each pair may
tangle together and exchange segments of genes, making new gene
combinations.

 Model the formation of new genotypes produced during meiosis

o Interpreting autosomal, sex-linkage, co-dominance, incomplete
dominance, and multiple alleles
  Autosomal: Relating to chromosomes that aren’t sex chromosomes,
e.g. in Mendel’s pea plants. Each plant carries 2 genes for a
characteristic, each an alternate form of the characteristic (like tall and
short). These genes are called alleles. One allele is dominant (T) and
expressed over the other (t), which is recessive. If the two alleles for a
characteristic are the same, it is homozygous (TT, tt), if different, it is
heterozygous (Tt). Each parent passes one gene, so their offspring has
two genes for the characteristic.
The rhesus system only has two alleles, and is an example of dominant
and recessive alleles (Rh+ is dominant to Rh-).
 Sex-linkage: Relating to sex chromosomes (like female XX and male
XY). Thomas Morgan, through fruit flies, found that sex chromosomes
often carry only 1 gene instead of 2 because the Y chromosome is
smaller and has less genetic material, and doesn’t carry genes.
Many recessive conditions are mainly expressed in males because a
male only inherits one gene for a characteristic and it is always
expressed, even if it is recessive, because he cannot inherit a dominant
gene on his Y to mask its effect. (see punnett squares)
 Co-dominance: Two alleles are both dominant and both apparent in
the phenotype. An example of polygenic inheritance, where the
inheritance of a characteristic is controlled by 2 or more genes.
 Incomplete dominance: Two alleles blend together and show a
blended effect in the phenotype (e.g. white + red flower = pink flower)
 Multiple alleles: When there are over two alleles for a characteristic.
E.g. ABO blood groups (A and B are dominant over O, A and B are
co-dominant and = AB)
Blood group Genotype Antigens (are Antibodies (recognise
recognised by antigens for attack)
antibodies)
A IAi or IAIA A B

B IBi or IBIB B A
AB IAIB A+B None
O ii None A+B

o Constructing/interpreting info from pedigrees and Punnett squares

 Punnett squares: Allows you to predict the phenotypes of the
offspring of two parents, using the genotypes of the parents.
  Pedigree charts: Show inheritance patterns and allows inheritance of
genetic disorders to be followed. Problems usually whether the
condition is dominant or recessive and for the genotypes of certain
members.
Rules: If two affected have an unaffected child, the trait is dominant. If
two unaffected have an affected child, the trait is dominant. If every
affected person has an affected parent, the trait is dominant.

 Use data to represent the frequencies of characteristics in a population to

identity trends, relationships, limitations, etc.
o Examining frequency data
 Gene frequency: How often a certain allele for a gene occurs in a
population.
 Gene pool: Every allele of every gene in a population of a certain
species.
 Hardy-Weinberg principle: In a sexually-reproducing population with
random matings, gene frequency will not change unless certain
changes/events are occurring.
 Changes: mutation, emigration (organisms leave, shrinking gene pool),
immigration (organisms enter population, increasing gene pool),
natural selection (see next point).
 Natural selection: Certain alleles are selected for or against, depending
on whether they increase or decrease an organism’s survival chance.
Advantageous alleles are passed on to offspring who survive to
reproduce and pass on the characteristic -> frequency of this allele
increases.
o Analysing single nucleotide polymorphism (SNP)
 Definition: Variation in a single nucleotide among a
species/population’s DNA. E.g. at a specific position on the DNA
strand, most people have an A, while some others have a C. This
variation means that there is a SNP in this position. Other than SNPs,
all humans have the same DNA.
 Effects: Most SNPs occur in non-coding DNA, usually having no
effect, but some can e.g. change the structure of tRNA molecules.
Other, occur in genes and can cause changes to a nucleotide/protein
(maybe stopping the protein from working), while some don’t any
effect at all.
 Applications: Can be used as markers to find disease-causing genes,
and to track the inheritance of disease in families. The progression of a
disease can also be dependent on certain SNPs, the analysis of which
can open up personalised treatment options.

5: Inheritance Patterns in a Population - Can population genetic

patterns be predicted with any accuracy?
 Technologies used to determine inheritance patterns in a population
o DNA sequencing
 Used to determine the sequence of bases in DNA
 Sanger method: Genes/DNA is isolated and replicated using PCR
(polymerase chain reaction), the sequence is graphed by a computer.
 Maxim Gilbert method: Chemicals used to identify a specific base,
electrophoresis used to compare base patterns.
o DNA profiling
  Used to identity and compare individuals based on their DNA
sequence (and satellite DNA made up of STRs—short tandem repeats
—sections of DNA unique to every individual)
 A DNA sample is collected, DNA is isolated, PCR amplifies STRs,
gel/capillary electrophoresis detects difference in size.
 Applications: Paternity testing (comparing offspring’s DNA with
potential fathers), forensic investigations (identifying suspects/victims
with crime scene DNA)
 Investigate data analysis from a large-scale collaborative project to
identify trends, patterns and relationships
o Human Genome Project (HGP)
 A publicly funded international scientific project, aiming to determine
the DNA sequence of humans. The development of technology
accelerated progress greatly.
 Gave insight into human evolution/ancestry, allows for
improved/personalised disease treatments, allows determination of
disease inheritance
o Conservation population genetics
 Used to maintain biodiversity and genetic variation, as genetic
variation = organisms adapt to change = conservation of species.
Harmful alleles can be detected and bred out, advantageous ones can
be introduced.
 Methods used: field observation, sampling, statistical analysis, DNA
analysis (SNPs, haplotypes—groups of genes inherited together,
GWAS—genome wide association study).
o Population genetics to determine disease/disorder inheritance
 Enables scientists to better diagnose disease, study disease inheritance
and improve treatment options.
 Black urine disease—causes many issues. DNA sequencing/other
technology found this disease was caused by a mutation in a specific
gene.
o Population genetics in human evolution
 Anthropological genetics aims to explain causes of human diversity
(mutation, natural selection, genetic drift) and pathways of evolution.
 Genetic evidence: Comparing human and chimp genomes,
accumulated differences can be used to determine how long ago the
species separated.
 Modern humans: By comparing SNPs of indigenous people from
different locations, we get clues about the patterns of migration and
interbreeding that occurred.
 Mitochondrial and Y-chromosomal DNA: Modern humans are all
descended from a wave of migration out of Africa 60,000 years ago.
We know this from mt-DNA, which is passed only from mother to
daughter. Studies of SNPs in mt-DNA shows that all people are
descended directly from a woman living in Africa 150,000 years ago.
The same has been determined for males from Y-chromosomal DNA.