Genetics

By Madelief and Rambo

3.1 Genes
The official IB guide for Genes

https://ibpublishing.ibo.org/server2/rest/app/tsm.xql?
doc=d_4_biolo_gui_1402_4_e&part=3&chapter=3
Distinguish between alleles, genes
and genomes
Gene: a heritable factor that controls a specific
characteristic.
Allele: one specific form of a gene, differing
from other alleles by one or a few bases only
and occupying the same gene locus as other
alleles of the gene.
Genome: the whole of the genetic information
of an organism
Distinguish between the number of genes that an organism has
and its genome size
Describe the Human Genome Project and its consequences
 Define gene mutation and identify its role in the creation of new alleles

Gene mutation is a change in the nucleotide

sequence of a section of DNA. The most
significant type of mutation is a base
substitution.

New alleles are formed from other alleles by

mutation Most mutations are either neutral or
harmful. Mutations in cells are eliminated when
the individual dies but mutations in cells that
develop into games can be passed onto
offspring and cause genetic disease that
becomes heritable.
 Sickle cell anaemia

Sickle cell anaemia is caused by a single nucleotide

polymorphism where the adenine in the sequence GAG is
substituted for thymine to make GTG.

That changes the structure of the resultant polypeptide,

changing the shape of red blood cells from round disks to
half-moons.

Half-moons shape causes congestion in the bloodstream

and sometimes leads to crystallization of sickle cells.
3.2 Chromosomes
The official IB guide for Chromosomes
Compare eukaryotic and prokaryotic chromosomes
Define the terms diploid and haploid and homologous
chromosomes

Homologous chromosomes are found in the nuclei in the cells of diploid

organisms.

But if each chromosome exists alone with no partner, the cell is said to be haploid.

Human somatic cells are diploid and contain 44 chromosomes in 23 homologous

pairs; human gametes are haploid and contain only 23 chromosomes, one of each
pair found in the body cells.

The number of chromosomes found in the cells of an organism is a characteristic

feature of that organism.
 Describe how the length of DNA molecules can be measured by
autoradiography

Cairns is a British molecular biologist who measured the

length of DNA molecules by autoradiography.

Cells were grown for two generations in a culture medium

containing tritiated thymidine.

Cells were then placed into a dialysis membrane and their

cells walls are digested by the enzyme lysozyme.

This releases their DNA onto the surface of the dialysis

membrane. Photographic emulsion film was placed onto
the surface of the membrane and left in the darkness for
two months.

The film was then developed and at each point where the
tritium atom decayed was a dark grain, which indicated
the position of the DNA.
 Karyograms

Chromosomes have unique banding patterns

that are revealed if they are stained with
specific dyes.

A karyogram is a photograph or diagram of

the stained chromosomes.
The karyogram image is organised so that
each chromosome is separated from the
others and they are arranged in order of their
size.
A karyogram shows the karyotype of the cell
which is the number and types of
chromosomes present in its nucleus and it
indicates the sex of an individual because it
shows the sex chromosomes.
Compare the diploid chromosome numbers of Homo sapiens, Pan troglodytes,
Canis familiaris, Oryza sativa, Parascaris quorum.
Comparison of genome size in T2 phage, E.coli, Drosophila melanogaster, Homo
sapiens and Paris japonica.
State that gender is determined by sex chromosomes and autosomes are
chromosomes that do not determine the sex
3.3 Meiosis The official IB guide for Meiosis
Draw and annotate diagrams to describe the stages of meiosis

● Prophase I
○ Cell has 2n chromosomes (double chromatid)
○ n is haploid number of chromosomes
● Homologous chromosomes pair (synapsis)
● Crossing over occurs
Draw and annotate diagrams to describe the stages of meiosis

● Metaphase I
○ Spindle microtubules move homologous pairs to equator of cell
○ Orientation of paternal and maternal chromosomes on either side of
equator is random and independent of other homologous pairs
Draw and annotate diagrams to describe the stages of meiosis

● Anaphase I
○ Homologous pairs are separated
○ One pair of chromosome of each pair moves to each pole
Draw and annotate diagrams to describe the stages of meiosis

● Telophase I
○ Chromosomes uncoil
○ During interphase that follows no replication occurs
○ Reduction of chromosome number from diploid to haploid
completed
○ Cytokinesis occurs
Draw and annotate diagrams to describe the stages of meiosis

● Prophase II
○ Chromosomes, which still consists of two chromatids
○ Condense and become visible
Draw and annotate diagrams to describe the stages of meiosis

● Metaphase II
○ Spindle fibres from opposing centromeres attach to chromosomes at
the centromere
○ Align themselves along the cell equator
Draw and annotate diagrams to describe the stages of meiosis

● Anaphase II
○ Spindle fibres contract and separate the sister chromatids
○ Chromatids (chromosomes) move to opposite poles
Draw and annotate diagrams to describe the stages of meiosis

● Telophase II
○ Chromosomes decondense
○ Nuclear membrane reforms
○ Cells divide (cytokinesis) to form four haploid daughter cells
Draw and annotate diagrams to describe the stages of meiosis
Explain how meiosis promotes genetic variation by allowing crossing over,
random orientation of chromosomes, and the fusion of gametes from different
parents
● Crossing over
○ Prophase I, homologous chromosomes undergo a process called synapsis
○ Crossing over of genetic material between non-sister chromatids can occur at chiasmata
○ Once chiasmata are formed, homologous chromosomes condense as bivalents and then
are separated in meiosis
Explain how meiosis promotes genetic variation by allowing crossing over,
random orientation of chromosomes, and the fusion of gametes from different
parents
● Random Assortment
○ Metaphase I, homologous chromosomes line up at the equator as bivalents in one of two
arrangement
○ This orientation of pairs of homologous chromosomes is random, as is the subsequent
assortment of chromosomes into gametes
○ As random assortment will occur for each homologous pair, the number of possible
gamete combinations are dependent on the number of homologous pairs
Explain how meiosis promotes genetic variation by allowing crossing over,
random orientation of chromosomes, and the fusion of gametes from different
parents
● Sexual Life Cycle
○ Most reproducing organisms are diploid, meaning they have two copies of every
chromosome (maternal | paternal copy)
○ Fertilisation of two haploid gametes (egg + sperm) will result in the formation of a diploid
zygote that can grow via mitosis
Explain how nondisjunction can cause Down’s Syndrome and other chromosome
abnormalities

● Nondisjunction

Failure of homologous pairs of the chromosomes to separate

properly during meiosis

Results in gamete with one too few or one too many

chromosomes

Some cases a gamete with an extra chromosome does survive

and after fertilisation produces a zygote with three chromosomes
of one type and this is trisomy

● Down’s Syndrome
■ Occurs when a gamete, usually female,
receives 24 chromosomes instead of 23
■ Baby with 47 chromosomes instead of 46
○
3.4 Inheritance
The official IB guide for Inheritance
Define genotype, phenotype, dominant, recessive, codominance, locus
homozygous and heterozygous.
Explain how Mendel discovered the principles of inheritance with experiments in
which large numbers of pea plants were crossed.

The study of genetics aims to explain similarities and differences

between parents and their offspring.

The study of inheritance began with Mendel knew nothing of DNA

or chromosomes but his studies of plant breeding became crucial
to our understanding of inheritance.

Mendel’s early studies involved the inheritance of just one pair of

characteristics. He conducted what is now called a monohybrid.

From his results Mendel found that approximately three quarters

of the plants were tall aka the ratio of tall : short plants was 3 :1
Describe ABO blood groups as an example of codominance and multiple alleles

The ABO human blood grouping is an

example of both codominance and multiple
alleles.

There are three alleles – IA, IB and i. IA and IB

are codominant and both are dominant to i.

This results in four different phenotypes or

blood groups.
Explain how pedigree charts work and how genetic diseases in humans are due
to recessive alleles of autosomal genes.
 Sex linkage

Humans have one pair of chromosomes that determine whether the

person is male or female. These chromosomes are called the sex
chromosomes. Each person has one pair of sex chromosomes, either
XX or XY, along with 22 other pairs known as autosomes. The ratio of
phenotypes female : male is 1 :1.

he sex chromosomes not only carry the genes that control gender, the
X chromosome also carries genes called sex-linked or X-linked
genes.Sex linkage has a significant effect on genotypes.

Females have two X chromosomes, so they have two alleles for each
gene and may be homozygous or heterozygous. Males only have one
allele on their X chromosome with no corresponding allele on the Y
chromosome, so a recessive allele will always be expressed in a
male.
Solve genetics problems involving colour blindness and haemophilia as
examples of sex linkage
3.5 GM & Biotech
The official IB guide for GM & Biotech
Outline the process and function of polymerase chain reaction (PCR)

● Simple method that makes millions of copies of tiny amounts of DNA

● Uses special type of DNA called DNA Taq Polymerase
● Process
○ Heated to 95ºC to break H bonds and split strands
○ Cooled to 60ºC, primers are attached to strands and free nucleotides
are added
○ Complementary strands of DNA are synthesised
● Amplify small amounts of DNA for analytical purposes
○ Multiply DNA gathered from crime scenes or cheek smears
Outline the process and function of gel electrophoresis

● Method used to separate fragments of DNA on the basis of size and the
electrical charge they carry
● Identify natural variations found in every individual’s DNA
● Restriction enzymes
○ Used to cut DNA into fragments
● Examines repetitive sequences of Satellite DNA
○ Variable Number Tandem Repeats (VNTRs) and Short Tandem Repeats (STRs)
○ Repeated sequences of DNA, very similar in close relatives but vary in unrelated people
● DNA Fragments placed in gel + electric field is applied
○ Each DNA fragment gap has negative charge; will move to electric field
○ Distance depending on size; smaller fragments move easier and faster
● Stained and DNA PROFILE is made
Define genetic modification as the transfer of genes between species

● Used to produce new varieties of organisms with useful desirable

characteristics
● Selective plant and animal breeding for specific characteristics
● Gene technology
○ Transfer genes from one species to another completely different species
○ Bacterial genes transferred to plants
○ Human genes transferred to bacteria
○ Spider genes transferred to goat
● Only single genes used
○ Gene producing human blood clotting factor XI as example
Outline a basic technique used for gene transfer involving plasmids

● Used to produce insulin for diabetic patients

○ Many years ago, insulin obtained from cow or big pancreases
○ Process was difficult
○ Nowadays, humans inject themselves with insulin obtained from modified E. Coli bacteria
● Three key steps
○ Obtaining desired human insulin gene
○ Attaching DNA to vector, which will carry it into the host cell
○ Culturing host cell so that they translate DNA and make insulin
Outline two examples of the current uses of GMOs

● Herbicides
○ Used to kill weeds in crop fields
○ Expensive and affect local ecosystems
○ Maximum crop protection, farmers needed to spray five times a year
○ Genes from soil bacteria transferred to maize and soybean plants, making them resistant
○ Spraying once kills weeds and leaves crops unaffected
● Pigs
○ Feed on grains and soybean meals = produce lots of phosphate
○ Causes pollution in the environment
○ Genetically modified pigs produce enzyme in saliva so they digest food better
○ More phosphorus absorbed and absorb nutrients into their blood = less released
Define a clone as a group of genetically identical organisms, derived from a
single original parent cell
● Cloning happens naturally
○ Identical twins or triplets are a clone
○ Cloning is very widespread in agriculture horticulture
Outline natural methods of cloning in plants and animals
● Many plant species can clone
themselves to reproduce - asexual
○ Strawberry plants put out runners from
which new plants
○ English elm trees reproduce using
suckers = produce new trees that are a
clone of the original plant
● Animal clones can be produced from
embryos after in vitro fertilisation
○ Zygote begins to divide and can be
separated into several parts in a petri
dish
○ Produces more individual animals with
desirable characteristics for farmers and
animal breeders
THANK U (lol)