Science Notes
Science Notes
Pearson Science New South Wales 10 Teaching Program (4 weeks) Chapter 1 DNA and genetics
Genetics, DNA (deoxyribonucleic acid:contains the instructions for the growth and
development of all organisms. sequence of bases that holds the code for the formation of
proteins)
● Gamete. A gamete is a sex cell. These cells contain half the normal number of
chromosomes (23 in humans). This means that they are haploid cells.
● Nucleotide is the basic building block of nucleic acids (RNA and DNA). A nucleotide
consists of a sugar molecule (either ribose in RNA or deoxyribose in DNA) attached
to a phosphate group and a nitrogen-containing base.
● Chromosome. A chromosome is a structure in the nucleus of a cell that is made up of
one condensed molecule of DNA.
● centromere. The region of the chromosome to which the spindle fiber is attached
during cell division (both mitosis and meiosis). The centromere is the constricted
point at which the two chromatids forming the chromosome are joined together.
● Gene. A gene is a section of DNA that codes for a certain protein or characteristic.
● Allele. An allele is a certain version of a gene.
● Dominant. When a dominant allele is present, it is always expressed in an organism.
● Recessive. Only the receive allele can be present if its characteristic is to be
expressed.
● Codominant. Neither allele is recessive so characteristics of both alleles are
expressed.
● Homozygous. Both alleles are the same, either dominant or recessive. Two identical
homozygous individuals that breed together will be pure-breeding. This is because
they can only pass down one allele (one characteristic).
● Heterozygous. One dominant and one recessive is present. A heterozygous individual
will not be pure breeding as two different alleys can be passed down.
● Genotype. The genotype is the genetic sequence of an organism in terms of the
alleles present.
● Phenotype. The phenotype is the physical characteristics expressed by an organism
based on the environment and genotype. They are the observable features.
1. Identify that genetic information is transferred as genes in the DNA
of chromosomes.
Inheritance or heredity is the transmission of genetic information from generation to
generation. The study of it is called genetics. Code is inside 46 human chromosomes (thread
like structure made up of DNA) of the nucleus. (chromosomes carry genetic information in
the form of gene (s) [length of a DNA that codes for protein]). Code is made up of
nucleotides, which is read by ribosome in the cytoplasm to make proteins (assembles amino
acids into protein molecules, the specific order of amino acids is determined by the sequence
of bases) DNA controls cell functions by controlling the production of proteins.
Alleles are different versions of a particular gene.
Zygote is divided by mitosis to many cells, that then get specialised.
A karyotype is a picture showing the chromosomes organised in matching pairs in order of
size from biggest to smallest. In some karyotypes the chromosomes look like rods with a
thinner section (the centromere), and sometimes they look X shaped. The chromosomes that
are X shaped actually consist of two identical parts (chromatids) that are attached together at
the centromere. Later in the cell division process the chromatids will separate and look like
rods.
Sex is determined by 50% y chromosomes of father.
Because of:Mostly neutral. UV and chemicals rays also possible. 8.1.1 Genetic
Mutations | AQA A Level Biology Revision Notes 2017 | Save My Exams
Insertion of nucleotides
A mutation that occurs when a nucleotide (with a new base) is randomly inserted into the DNA sequence is known as an
insertion mutation
An insertion mutation changes the amino acid that would have been coded for by the original base triplet, as it creates a new,
different triplet of bases
This is because every group of three bases in a DNA sequence codes for an amino acid
An insertion mutation also has a knock-on effect by changing the triplets (groups of three bases) further on in the DNA
sequence
This is sometimes known as a frameshift mutation
This may dramatically change the amino acid sequence produced from this gene and therefore the ability of the polypeptide
to function
Insertion mutation, downloadable IGCSE & GCSE Biology revision notes
Deletion of nucleotides
A mutation that occurs when a nucleotide (and therefore its base) is randomly deleted from the DNA sequence is known as a
deletion mutation
Like an insertion mutation, a deletion mutation changes the amino acid that would have been coded for
Like an insertion mutation, a deletion mutation also has a knock-on effect by changing the groups of three bases further on in
the DNA sequence
This is sometimes known as a frameshift mutation
This may dramatically change the amino acid sequence produced from this gene and therefore the ability of the polypeptide
to function
Substitution of nucleotides
A mutation that occurs when a base in the DNA sequence is randomly swapped for a different base is known as a
substitution mutation
Unlike an insertion or deletion mutation, a substitution mutation will only change the amino acid for the triplet (group of
three bases) in which the mutation occurs; it will not have a knock-on effect
Substitution mutations can take three forms:
Silent mutations – the mutation does not alter the amino acid sequence of the polypeptide (this is because certain codons
may code for the same amino acid as the genetic code is degenerate)
Missense mutations – the mutation alters a single amino acid in the polypeptide chain (sickle cell anaemia is an example of a
disease caused by a single substitution mutation changing a single amino acid in the sequence)
Nonsense mutations – the mutation creates a premature stop codon (signal for the cell to stop translation of the mRNA
molecule into an amino acid sequence), causing the polypeptide chain produced to be incomplete and therefore affecting the
final protein structure and function (cystic fibrosis is an example of a disease caused by a nonsense mutation, although this is
not always the only cause)
Substitution mutation, downloadable IGCSE & GCSE Biology revision notes
Inversion mutations occur when a section of a gene is cut then resealed after 180° inversion
Duplication of a gene
A whole gene or section of a gene is duplicated so that two copies of the gene/section appear on the same chromosome
The original version of the gene remains intact and therefore the mutation is not harmful
Overtime, the second copy can undergo mutations which enable it to develop new functions
Duplication mutations are an important source of evolutionary change
Alpha, beta and gamma haemoglobin genes evolved due to duplication mutations
Gene Duplication, downloadable AS & A Level Biology revision notes
Duplication mutations occur when a gene is copied so that two versions of the same gene occur on the same chromosome
Meiosis is a type of cell division that produces daughter cells with half the number of
chromosomes of the parent cell. The halving of the chromosome number during meiosis is very important
for a sexual life cycle as it allows for the fusion of gamete.This fusion of gamete nuclei is known as fertilisation
○ Fertilisation doubles the number of chromosomes each time it occurs
○ This is why it is essential that the chromosome number is also halved at some stage in
organisms with a sexual life cycle, otherwise the chromosome number would keep doubling
every generation
○ This halving of the chromosome number occurs during meiosis
○ In animals, this halving occurs during the creation of gametes
During meiosis, one diploid nucleus divides by meiosis to produce four haploid nuclei
Having genetically different offspring can be advantageous for natural selection
Meiosis has several mechanisms that increase the genetic diversity of gametes
produced. The two main mechanisms are: Independent assortment, Crossing
overtherefore increase the survival chances of a species
● Both crossing over and random orientation result in different combinations of alleles in gametes.This
ensures there is genetic variation in populations of sexually-reproducing species, which is key to a
species' ability to evolve and adapt to changes in its environment over time, survival increase.
In the first half of meiosis chromosomes line up in the middle of the cell in matching pairs
(homologous pairs). In each homologous pair
one chromosome was inherited from the mother (maternal chromosome) and the other
was inherited from the father (paternal chromosome). When the homologous pairs
separate, chance determines which cell will end up with the maternal and paternal
chromosome from each pair. Since humans have 23 pairs of chromosomes, there are 2
23 or 8 388 608 different ways that the chromosomes can be divided.
Meiosis I
● The nucleus of the original 'parent' cell is diploid (2n) i.e. it contains two sets of
chromosomes
● Before meiosis I, these chromosomes replicate
● During meiosis I, the homologous pairs of chromosomes are split up, to produce two
haploid (n) nuclei
○ At this point, each chromosome still consists of two chromatids
● Note that the chromosome number halves (from 2n to n) in the first division of
meiosis (meiosis I), not the second division (meiosis II)
Meiosis II
● During meiosis II, the chromatids that make up each chromosome separate to produce
four haploid (n) nuclei
○ At this point, each chromosome now consists of a single chromatid
Similarities Between Mitosis and Meiosis
- Both mitosis and meiosis take place in the cell nuclei, which can be observed under a
microscope.
- Both mitosis and meiosis involve cell division.
- Both the processes occur in the M-phase of the cell cycle. In both cycles, the typical
stages are prophase, metaphase, anaphase and telophase.
- Begin from diploid.
- New cell productionn
- In both cycles, synthesis of DNA takes place.
● Modern scientific techniques mean that is possible to grow human embryos in the lab
and to extract embryonic stem cells from them
● These embryonic stem cells can then be encouraged to differentiate into most types of
specialised cell
● There is the potential for scientists and doctors to use stem cell technology to repair
damaged organs by growing new tissue from stem cells
○ The new tissue is produced by human embryos, using genetic information
from the patient
● Adult stem cells can also be cultured in the lab and made to differentiate into
specialised cells but of fewer types than embryonic stem cells (predominantly cells of
the blood)
● Stem cells could be used to cure many diseases in the future, such as diabetes and
paralysis
Stem Cell Treatment Table
GM genes may be transferred to other species / (cross) pollinate with other species; [1 mark]
(GM crops may) outcompete native species / affect food chains; [1 mark]
This could lead to a reduction in insect populations; [1 mark]
Could lead to more herbicide use (on unwanted plants containing GM genes); [1 mark]
→What is inheritance?
Inheritance refers to the passing of traits from parents to their offspring. These traits can include physical
characteristics, such as eye color and height, as well as behavioral traits and diseases.
Genes are the units of heredity that carry information about a particular trait from one generation to the
next. They are made up of DNA, which is a chemical code that contains instructions for making proteins in
the body.
Dominant and recessive inheritance refer to how genes interact to determine a trait in an individual. A
dominant gene is one that is always expressed, even if just one copy is present, while a recessive gene will
only be expressed if two copies are present.
Alleles are different forms of the same gene. For example, one allele may code for blue eyes, while another
allele may code for brown eyes. When an offspring inherits a gene from each parent, they have two alleles
for that gene.
A gene mutation is a change in the DNA code that makes up a gene. This can result in a different trait
being expressed, or a disease being caused. Some mutations are beneficial, while others are harmful.
Genetic variation refers to differences in the DNA code between individuals within a population. This
variation can result from mutations, or from different combinations of alleles from each parent. Genetic
variation is important because it allows populations to evolve and adapt to changing environments.
1. The Law of Dominance: The offspring always exhibits a dominant trait. From the two alleles received from
parents, the only dominant allele is expressed.
2. The Law of Segregation: The two copies of each chromosome will be separated from each other, causing the
two distinct alleles located on those chromosomes to segregate from one another.The law of segregation is the
most important law because it has no exceptions and is universally accepted.
3. The Law of Independent Assortment: The traits inherited through one gene will be inherited independently of
the traits inherited through another gene because the genes reside on different chromosomes that are
independently assorted into daughter cells during meiosis.
Gregor Mendelian genetics Pedigrees and Punnett Squares – Principles of Biology
Haemophilia can be present, absent or carrier by female. Male can only be present or
absent.
Process of Genetic Engineering
The gene that is to be inserted is located in the original organism (for example, this could be the gene for human insulin)
Restriction enzymes are used to isolate the required gene, leaving it with ‘sticky ends’ (a short section of unpaired bases)
A bacterial plasmid is cut by the same restriction enzyme leaving it with corresponding sticky ends (plasmids are circles of DNA found
inside bacterial cells).
The plasmid and the isolated gene are joined together by DNA ligase enzyme
If two pieces of DNA have matching sticky ends (because they have been cut by the same restriction enzyme), DNA ligase will link them to
form a single, unbroken molecule of DNA.
The genetically engineered plasmid is inserted into a bacterial cell. When the bacteria reproduce the plasmids are copied as well and so a
recombinant plasmid can quickly be spread as the bacteria multiply and they will then all express the gene and make the human protein. The
genetically engineered bacteria can be placed in a fermenter to reproduce quickly in controlled conditions and make large quantities of the
human protein
Bacteria are extremely useful for genetic engineering purposes because:
They contain the same genetic code as the organisms we are taking the genes from, meaning they can easily ‘read’ it and produce the same
proteins
There are no ethical concerns over their manipulation and growth (unlike if animals were used, as they can feel pain and distress)
The presence of plasmids in bacteria, separate from the main bacterial chromosome, makes them easy to remove and manipulate to insert
genes into them and then place back inside the bacterial cells
Chromosomes:
● Structure: Chromosomes are thread-like structures made of DNA and protein (histones) that carry the
genetic information of an organism. They are tightly coiled and condensed during cell division for easier
movement.
● Number: Each organism has a specific number of chromosomes in the nucleus of each cell (humans
have 46). These chromosomes come in pairs, with one inherited from each parent (homologous
chromosomes).
● Duplication: Before cell division, chromosomes replicate themselves to create identical copies.
Chromatids:
● Structure: Chromatids are the two identical sister copies of a chromosome formed after replication.
They are joined at a central region called the centromere.
● Number: During cell division, each chromosome separates into its two chromatids, resulting in twice the
number of chromatids compared to chromosomes before replication.
● Separation: During cell division (mitosis or meiosis), the sister chromatids separate and become
individual chromosomes that migrate to daughter cells.
Inheritance refers to the process by which traits are passed from parents to offspring. This
occurs through the transmission of genetic material from one generation to the next during
sexual reproduction. Offspring inherit a combination of genes from both parents, resulting in
a unique genetic makeup that contributes to their traits.
The inheritance of traits follows the principles of Mendelian genetics, which describe
patterns of inheritance based on the behavior of genes and alleles. These principles include:
Dominance and Recessiveness: Some alleles are dominant, meaning their effects are
observable in the phenotype even when paired with a recessive allele. Recessive
alleles are only expressed in the phenotype when paired with another recessive allele.
Segregation: During gamete formation (meiosis), alleles segregate or separate from
each other, with each gamete receiving only one allele for each gene.
Independent Assortment: Genes located on different chromosomes assort
independently during gamete formation, leading to the random assortment of alleles
into gametes.
abnormal cells can form tumors and interfere with the normal functioning of organs and tissues.
Cell division plays a crucial role in cancer because cancer cells divide uncontrollably. Normally, cell division is
tightly regulated by the body to ensure that cells only divide when necessary. However, in cancer, genetic
mutations can disrupt this regulation, leading to uncontrolled cell division. This results in the accumulation of
abnormal cells, which can eventually form tumors and spread to other parts of the body, a process known as
metastasis. Thus, the relationship between cancer and cell division lies in the dysregulation of the normal cell
One similarity between mitosis and meiosis is that both processes involve the division of a
single cell into multiple daughter cells. In both mitosis and meiosis, the parent cell
undergoes a series of stages that ultimately result in the formation of new cells. However,
the specific outcomes and purposes of mitosis and meiosis differ.
2. **DNA**:
DNA, or deoxyribonucleic acid, is a molecule that carries the genetic instructions for the development, functioning, growth, and reproduction of
all known living organisms and many viruses. It is composed of two strands coiled around each other to form a double helix structure. DNA
consists of four nucleotide bases: adenine (A), thymine (T), cytosine (C), and guanine (G). The sequence of these bases encodes the genetic
information. DNA is found in the nucleus of eukaryotic cells and in the cytoplasm of prokaryotic cells, organized into chromosomes.
3. **Genes**:
Genes are segments of DNA that contain the instructions for producing specific proteins or functional RNA molecules. They serve as the units
of heredity and determine the traits or characteristics of an organism. Each gene occupies a specific location on a chromosome called a locus.
Genes can exist in different forms called alleles, which can result in variations in traits among individuals. Genes are responsible for inherited
traits passed from parents to offspring, and they play a crucial role in the development, growth, and functioning of organisms.
16.Name three processes that cell division helped to achieved for a multicellular organism
such human.
Cell division serves several essential functions in multicellular organisms like humans:
1. **Growth**: Cell division allows an organism to grow by increasing the number of cells in
its body. During growth, cells divide and multiply to form tissues, organs, and ultimately the
entire organism.
2. **Repair and Maintenance**: Cell division plays a crucial role in repairing damaged tissues
and maintaining the integrity of organs. When cells are injured or die, they need to be
replaced through cell division to ensure proper functioning of the organism.
2. **Cell Division**: DNA replication is necessary for cell division, as each daughter cell must
receive an identical copy of the genetic material to ensure proper functioning and growth of
the organism. Without accurate DNA replication, cells may receive incomplete or incorrect
genetic information, leading to genetic disorders or cell death.
3. **Repair and Maintenance**: DNA replication allows for the repair of damaged DNA. Cells
are constantly exposed to various sources of damage, such as radiation, chemicals, and
errors during replication itself. DNA replication provides an opportunity for damaged DNA
strands to be repaired by specialized cellular machinery, helping to maintain genomic
integrity and prevent mutations.
4. **Gene Expression**: DNA replication is intimately linked with gene expression, the
process by which genetic information is used to synthesize proteins and carry out cellular
functions. Accurate replication ensures that each daughter cell receives the appropriate
complement of genes needed for proper functioning.
18.a State two environmental factors that can affect the role of our (human) genes?
Two environmental factors that can affect the role of human genes are:
1. **Diet and Nutrition**: Environmental factors such as diet and nutrition can influence gene
expression and function. Nutrients and dietary components can directly interact with genes,
affecting their activity and regulation. For example, certain vitamins and minerals are
essential for the proper functioning of enzymes involved in DNA replication and gene
expression.