03 Genetics Summary

3.1 Genes
Essential Idea:
Every living organism inherits a blueprint for life from its parents

Understandings:
A gene is a heritable factor that consists of a length of DNA and influences a specific
characteristic
A gene occupies a specific position on a chromosome
Locations are called locus, or loci (plural).

The various specific forms of a gene are alleles

Alleles differ from each other by one or only a few bases
Alleles
Influence the same characteristic.
Occupy the same position.
Differ by just a few bases.

New alleles are formed by mutation

Mutations are random changes to the base sequence of a gene. Types of mutation include:
Addition
Deletion
Substitution

Not all mutations cause disease. Sometimes mutations will not have an effect. This is because there are multiple
codons for every amino acid. Therefore a change could still result in the same amino acid/ protein.
Silent mutation: the change in base sequence has no effect on the amino acid produced.

Mutations are important as they are the original source of all genetic variation. The mutation rate is increased by
two types of mutagen:
High energy radiation including X-rays, UV, gamma rays and particles from radioactive isotopes.
Mutagenic chemicals such as in tobacco.

The genome is the whole of the genetic information of an organism

The entire base sequence of human genes was sequenced in the Human Genome Project

Applications:
The causes of sickle cell anaemia, including a base substitution mutation, a change to the
base sequence of mRNA transcribed from it and a change to the sequence of a polypeptide
in haemoglobin
An example of two different alleles there are two alleles for red blood cells, one of which is normal, and the other
causes sickle cell anaemia.
 Normal red blood cells Sickle cells
Pros and cons: Carry oxygen efficiently but Carry less oxygen but are resistant
are affected by malaria. to malaria.
DNA: GAG in anti-sense base. GTG in anti-sense base, due to base substitution.
mRNA: Transcription: GAG GUG
Amino acid: Translation: CUC (glutamic acid) CAC (valine)
Phenotype: Normal red blood cells (round). Sickle cells (crescent shaped). Affects the ability of
the cells to move through the blood.

Gene for sickle cell disease is not always bad, as it protects against malaria disease. It is best to have one normal gene
and one sickle gene. The best genotype is heterozygous.

Comparison of the number of genes in humans with other species

Genome: the whole of the genetic information of an organism. Size of a genome is therefore the total amount of
DNA in one set of chromosomes in that species. Measured in millions of base pairs (bp).

Scientists use tags to identify the number of genes. Therefore, is a bit of an estimation, and not entirely accurate.

Skills:
Use of a database to determine differences in the base sequence of a gene in two species
Gene sequences from different species can be identified and then compared using online resources.

3.2 Chromosomes
Essential Idea:
Chromosomes carry genes in a linear sequence that is shared by members of a species
Understandings:
Prokaryotes have one chromosome consisting of a circular DNA molecule
Some prokaryotes also have plasmids but eukaryotes do not
Eukaryote chromosomes are linear DNA molecules associated with histone proteins
In a eukaryote species there are different chromosomes that carry different genes
Eukaryote chromosomes Prokaryote chromosomes
Contain a linear DNA Consist of a circular DNA molecule
molecule Naked - no associated proteins
Associated with histone Plasmids often present (smaller extra
proteins loops of DNA)
No plasmids One chromosome only
Two or more different
chromosomes

Homologous chromosomes carry the same sequence of genes but not necessarily the same
alleles of those genes
Sexually reproducing organisms inherit genes from both parents - two copies of each chromosome (maternal and
paternal). These are homologous chromosomes.

Homologous chromosomes are chromosomes that share:

Same structural features (e.g. size, banding patterns, centromere positions)
Same genes at same loci (but alleles may be different)

Diploid nuclei have pairs of homologous chromosomes

Haploid nuclei have one chromosome of each pair
Diploid Haploid
Nuclei with pairs of homologous chromosomes Nuclei with one set of homologous chromosomes
(symbolised as 2n) (symbolised as n)
In humans, 46 chromosomes. In humans, 23 chromosomes.
Somatic cells. Sex cells (gametes).
Possess 2 genes copies (alleles) for each trait. Possess single gene copy (allele) for each trait.
The number of chromosomes is a characteristic feature of members of a species
Chromosome number is a characteristic feature of members of a particular species
Organisms with different diploid numbers are unlikely to be able to interbreed (cannot match homologous pairs)
If they do breed, offspring are usually infertile (cannot form functional gametes)

A karyogram shows the chromosomes of an organism in homologous pairs of decreasing

length
Karyotypes are the number and types of chromosomes found via this process:
Harvesting cells (usually from a foetus or white blood cells of adults)
Chemically inducing cell division, then arresting mitosis while chromosomes are condensed
The stage during which mitosis is halted will determine whether chromosomes appear with sister chromatids
or not

Chromosomes are stained and photographed to make a karyogram

Arranged into homologous pairs according to size (with sex chromosomes shown last)
Sex is determined by sex chromosomes and autosomes are chromosomes that do not
determine sex
Autosomes Sex chromosomes
Chromosomes 1 to 22 X and Y chromosomes
(3 x chromosome 21 = trisomy 21 or Down syndrome) (XX = female)
(XY = male)
(XXY = Klinefelter syndrome)

Karyotyping used to:

Determine gender of unborn child (via identification of the sex chromosomes)
Test for chromosomal abnormalities (e.g. aneuploidies or translocations)

Applications:
Cairns' technique for measuring the length of DNA molecules by autoradiography
John Cairns created technique for measuring length of DNA molecules by autoradiography.
Previously, was measured while condensed during mitosis (very inaccurate due to supercoiling).
By using tritiated uracil (3H-U), regions of active transcription can be identified within the uncoiled chromosome.

Comparison of genome size in T2 phage, Escherichia coli, Drosophila melanogaster, Homo

sapiens and Paris japonica
Genome sizes vary considerably and are not necessarily related to complexity. Size of genome is total amount of DNA
is one set of chromosomes.

T2 phage Virus that attacks E. coli. 0.18 million bp

Escherichia coli Gut bacterium. 5 million bp
D. melanogaster Fruit fly. 140 million bp
Homo sapiens Humans. 3,000 million bp
Paris japonica A woodland plant. 150, 000 million bp

Comparison of diploid chromosome numbers of Homo sapiens, Pan troglodytes, Canis

familiaris, Oryza sativa and Parascaris equorum
Chromosomes numbers are a characteristic of a species, and it varies considerably. Number = the diploid number.
 Homo sapiens Humans. 46
Pan troglodytes Chimpanzee. 48
Canis familiaris Dog. 78
Oryza sativa Rice. 24
Parascaris equorum Horse threadworm. 4

Use of karyograms to deduce sex and diagnose Down syndrome in humans

Skills:
Use of databases to identify the locus of a human gene and its polypeptide product
The locus of a human gene and its polypeptide product can both be identified using a single online resource:
GenBank.

Key vocabulary:

Vocabulary:

- Dominant allele: ALWAYS EXPRESSED in the phenotype.

- Co-dominant alleles: Pairs of alleles that both affect the phenotype when present .

- Carrier: An individual who has a recessive allele of a gene that does not display that phenotype.

- Sex linkage: A gene located on a sex chromosome

Chapter 3.3.: Meiosis

Understandings:
One diploid nucleus divides by meiosis to produce four haploid nuclei
Separation of pairs of homologous chromosomes in the first meiotic division halve the
chromosome number

All body cells have 46 chromosomes except gametes. They only have 23 as after they fuse to
form a zygote they contain 46. Meiosis is the process that halves chromosome number and allos a
sexual life cycle with fusion of gametes. In meiosis, a diploid nucleus divides twice to produce four
haploid nuclei.

- Meiosis I separates pairs of homologous chromosomes to halve the chromosome

number (diploid haploid)

- Meiosis II separates sister chromatids (created by the replication of DNA)

Understanding:
DNA is replicated before meiosis so that all chromosomes consist of two sister chromatids
Identical DNA molecules (sister chromatids) held together by a single centromere
The sister chromatids are separated during meiosis II, following the separation of
homologous chromosomes in meiosis I
Meiosis steps I and II:
 Genetic variation:

Understandings:
Crossing over and random orientation promotes genetic variation
Fusion of gametes from different parents promotes genetic variation

Crossing Over The exchange of genetic material occurs between non-sister

chromatids at points called chiasmata
Recombinants: Chromatids that consist of a combination of DNA derived
from both homologous chromosomes.
Random Orientation When homologous chromosomes line up in metaphase I,
their orientation towards the opposing poles is random
Random Fertilisation As meiosis results in genetically distinct gametes, random
fertilisation by egg and sperm will always generate different zygotes

Application:
Non-disjunction can cause Down syndrome and other chromosomal abnormalities
Non-disjunction refers to the chromosomes failing to separate correctly, resulting in gametes with one extra,
or one missing, chromosome.

Down syndrome
Individuals with Down syndrome have three copies of chromosome 21 (trisomy 21)
One of the parental gametes had two copies of chromosome 21 as a result of non-
disjunction
The other parental gamete was normal and had a single copy of chromosome 21
When the two gametes fused during fertilisation, the resulting zygote had three copies of
chromosome 21

3.4: Inheritance:
Understanding:
Mendel discovered the principles of inheritance with experiments in which a large number of pea
plants were crossed

Mendel performed experiments on a variety of different pea plants, crossing

these varieties by using the male pollen from one variety and transferring it to
the female part of another variety.
He collected the seeds and grew them to determine their characteristics
Mendel crossed 2 varieties of peas together:

- The first generation had all expressed the same trait as one of the
parent.

- Then the first generation peas were self-fertilised.

o The second generation expressed two different traits in a 3 : 1

ratio.
 Application:
Inheritance of ABO blood groups
- This involved both co-dominance and
multiple alleles.
- Co-dominance when both the
alleles present have joint effects on a
heterozygous individual. (e.g. IAIB)
- Multiple alleles If there ar more
than two alleles of a gene they are called multiple alleles. (the gene for ABO blood groups has
three alleles: IAIB and i)

Understanding:

Many genetic diseases in humans are due to recessive alleles of autosomal genes, although
some genetic diseases are due to dominant or co-dominant alleles

Recessive autosomal diseases: Dominant autosomal diseases

PKU: increases the level of phenylalanine in Huntingtons disease causes the

blood . (impaired metabolism of
phenylalanine)
Cystic fibrosis: Production of excessive
mucus resulting in respiratory difficulty.
degeneration of neurons, difficulty in
walking + uncontrollable movements.
Polydactyly Causes growth of more
than five fingers or toes on a hand or
foot.

Sex-linked genes: The alleles for these are located on the X chromosomes and result in
different inheritance patterns between males and females
Inheritance of colour blindness and haemophilia

Colour blindness and haemophilia are both examples of X-linked recessive conditions
The gene loci for these conditions are found on the non-homologous region of the X
chromosome (they are not present of the Y chromosome)
As males only have one allele for this gene they cannot be a carrier for the condition
This means they have a higher frequency of being recessive and expressing the trait
Males will always inherit an X-linked recessive condition from their mother
Females will only inherit an X-linked recessive condition if they receive a recessive allele
from both parents so this is very rare.

Pattern of inheritance differs in males and females because females have 2 X

chromosomes and males have only one. Only females can therefore be carriers of recessive
alleles of sex-linked genes and conditions (e.g. for haemophilia X HXh female carrier)
 Carrier Has a recessive alleles of a gene but dominant allele is also present so
recessive allele trait is not expressed.

Skill:
Construction of Punnett grids for predicting the outcome of monohybrid genetic crosses
 Understanding:
Radiation and mutagenic chemicals increase the mutation rate and can cause genetic diseases
and cancer

Causes of mutation: Mutations can be spontaneous or induced by exposure to external

elements
- Radiation and mutagenic chemicals increase the mutation rate and can cause genetic
disease and cancer.
- Mutagenic chemicals are substances that can alter the DNA of an organism and cause
mutation
- Radioactive material breaks down over time. When radiation from these materials
comes in contact with a DNA molecule it can cause mutation

3.5: Genetic modification and biotechnology:

Understanding:
PCR can be used to amplify small amounts of DNA
Gel electrophoresis is used to separate proteins or fragments of DNA according to size

PCR (polymerase chain reaction) Technique used to make many copies of DNA used to
amplify large quantities of a specific sequence of DNA from an initial minute sample
- Primer binds to both strands of DNA next to the sequence that is to be copied
- Taq DNA polymerase replicates both strands, starting at the primer, producing two
double-stranded copies of the original DNA.

Gel electrophoresis: Process that separate DNA fragments of different lengths so that we can
create a profile of that DNA.
1. Enzymes cut DNA into different sized fragments
2. Sample is placed on a thin sheet of get
3. An electric field is applied to the gel by attaching electrodes to both ends
Depending on whether particles are positively or negatively charged, they move towards one of
the electrodes or the other. The rate of movement depends on size of the molecules (small move
faster).

Understanding:
DNA profiling involves comparison of DNA
 DNA profiling to determine paternity and for forensic investigation
DNA profiling is a technique by which individuals can be identified and compared via their
respective DNA profiles
A DNA sample is collected (blood, saliva, semen, etc.) and amplified using PCR
DNA is cut with specific restriction enzymes to generate fragments
Individuals will have unique fragment lengths due to the variable length of their short
tandem repeats (STR)
The fragments are separated with gel electrophoresis (smaller fragments move quicker
through the gel)
The DNA profile can then be analysed according to needs

Application:
Gene transfer to bacteria using plasmids makes use of restriction endonucleases and DNA
ligase

Gene transfer Taking a gene from one organism and placing it into another organism
Possible because: Genetic code is universal the same codons are translated into the same
amino acids in all organisms.
- So genes can be inserted from one organism into another and a protein can be
made
Gene transfer STEPS:
1. Remove DNA from donor and host cell
2. Cut the gene out from the donor cell using restriction enzyme
3. Glue gene in the host cells chromosome using ligase
4. Insert the newly modified chromosome back into the host cell
Example:
- The human gene fore insulin production is inserted in to an E.coli bacterium
- The bacteria reproduce
- The colony of bacteria produces human insulin, which can be used for diabetics.

Understanding:
Gene modification is carried out by gene transfer between species

GMO: (genetically modified organisms ) organism with a gene that has been artificially
inserted into its genome
- Created to give an organism a desirable property that it doesnt naturally posses
- Transgenic: any organism that has a gene from a different species inserted into its
genome.
- Examples:
o Bt maize
 Gene transferred from bacterium that codes for a bacterial protein that kills
insect pests feeding on crop.
Advantage:
Higher crop yields
Less land needed for crop production
Less use of insecticide sprays
Disadvantages:
Insects pests of corn may develop resistance to the toxin.
Transferred gene might spread to populations of natural plants.
Insects that are not pests could be killed.

Transgenic Animals:
- Same principle as plants: Insert a gene that isnt normally there, the animal will produce
thing that it doesnt normally produce
o Example:

- People with haemophilia cant produce a blood clotting factor. Scientists have found
a way to insert this gene into sheep and then the sheep make large contents of this
blood clotting factor in their milk which haemophiliacs then drink
Cloning: Plants
- Clone Offspring that is an exact copy of its parent
- Asexual organisms are ALWAYS clones
- Some plants produce sexually and have the ability to clone themselves.
- Example:
Potatoes can reproduce sexually to make offspring with large amounts of variation. A
part of a potato can be replanted in the ground to make a new identical plant.
- Disadvantage:
o If the environment changed and all of the individuals are the same, it is likely that
the entire population will be wiped out
Cloning: Animals:
- Cloning embryos:
o New identical embryos can be placed into the uterus of the animal of the
animal that the original embryo came from
 Based on survival of embryos: If more than one of the embryos survive,
they will form identical twins/triplets/quadruplets (depending on how many
embryos were used and were successful)
STEPS:
1. Collect differentiated somatic cell from donor and use only the nucleus
2. Collect egg cell from female and remove the nucleus and use only the enucleated cell
3. Fuse nucleus of somatic cell with enucleated egg cell using electricity
4. Transfer embryo resulted from fusion into a 3 rd sheep (surrogate mother).
5. Birth of offspring is genetically identical to the somatic nucleus donor.