Zusammenfassung der Ressource
CfE Higher Biology - Unit 1
- Key Area 1 - DNA Structure
- Genetic info is stored in the
base sequence of DNA
- Genotype is determined by the sequence of bases
- Nucleotide - deoxyribose sugar, phosphate, base
- Sugar phosphate backbone -
phosphate joins carbon 5 on
sugar and carbon 3 on other
sugar
- Hydrogen bond between bases
- Double helix, antiparallel
- Prokaryotes - circular chomosomal DNA &
plasmids, no membrane bound nucleus
- Eukaryotes - linear chromosomes in nuclei,
tightly packaged with associated proteins
- Mitochondria and
chloroplasts have
circular
chromosomes
- Key Area 2 - DNA Replication
- Required so that each daughter
cell has an identical copy of DNA
- Important to help give
growing cells exact copies
- Requires the DNA (template),
free DNA nucleotides, ATP,
enzymes & primers
- Enzymes: DNA polymerase -
adds complementary
nucleotides and Ligase - joins
fragments together
- Primer - allows DNA polymerase to bind
- Primers form at the 3' end
- 1. DNA unwinds, hydrogen bonds break
- 2. DNA polymerase adds nucleotides to the 3' end
- 3. On the leading strand (beginning with 3'), a primer binds to the DNA
- 4. DNA polymerase adds nucleotides to the 3' end
- PCR (Polymerase Chain Reaction) -
replicate DNA quick in a lab
- 1. Heated (approx 90 degrees) to
break the hydrogen bonds,
seperate strands
- 2. Cooled (approx 60 degrees) to allow the
primer to anneal to its target sequence
- 3. Heated (approx 72 degrees) so heat-tolerant DNA
polymerase can add nucleotides to the primers at 3' end. Then it repeats.
- Used for forensics and the study of evolution
- 5. Fragments of DNA are joined together by ligase.
- Key Area 3 - Control of Gene Expression
- Phenotype is
determined by the
proteins produced
as a result of gene
expression
- Gene expression is controlled by the
regulation of transcription and translation
- Gene expression is influenced by intra-
and extra-cellular factors
- Amino acids - peptide
bonds, folded, hydrogen
bonds
- RNA: one strand, uracil
replaces thymine, ribose sugar
- mRNA - carry copy of DNA to ribosome
tRNA - transports AA to ribosome to be
translated
- Transcription
- In nucleus
- RNA polymerase unwinds DNA
- RNA nucleotides form a primary transcript
- Introns - non-coding
Exons - coding
- Introns are removed by RNA splicing
- Translation
- Mature mRNA goes to cytoplasm to find a ribosome
- tRNA carries an amino acid
- tRNA has an AA attachment site, anticodon
- Anticodons on tRNA pair
with codons on the mRNA
- Peptide bonds form between
amino acids, polypeptide chain
- Post-translational modification: cutting
and combining polypeptide chains,
adding phosphate or carbohydrate
groups
- Key Area 5 - The Structure of the Genome
- Genome of an organism is the complete
set of genetic info encoded in its DNA that
can be inherited by offspring
- Genes - DNA sequences that code for protein
- A genome is made up of genes and other DNA
sequences that don't code for proteins
- Most of the genome consists of non-coding regions
- Regulation of transcription by turning genes on or off
- Transcribed but not translated (e.g. rRNA, tRNA)
- No known function
- Key Area 7 - Evolution
- Changes to organisms over time
mainly caused by natural selection
- Vertical inheritance - from parent to offspring
(asexual and sexual)
- Horizontal inheritance - prokaryotes,
rapid evolutionary change
- Prokaryotes and viruses transfer genes
horizontally into the genomes of eukaryotes
- Natural selection - non-random
increasein frequency of DNA
sequences that increases survival
- Sexual selection - natural selection of
characteristics that increase
reproductive success
- Selection pressure
- Stabilising - favours the middle
characteristics in a range of variation
- Directional - favours an extreme
characteristic away from the middle
- Disruptive - favours two extreme
characteristics at the expense of the middle
- Genetic drift - random
increase or decrease to
DNA sequences
- Happens in small populations by chance events ,
neutral mutation, colonisation, founder effect
- Founder effect - groups become
isolated from the main group
- Speciation - generation of a new
biological speciesby evolution
due to isolaion, mutation and
selection
- Allopatric - geographical barriers
(mountains, oceans)
- Sympatric - ecological and behavioural barriers
- Hybrid zones form in regions where
frequent interbreeding between two species
occur
- Key Area 8 - Genomic Sequencing
- To compare sequence data, computer and statistical
analyses (bioinformatics) are required
- Phylogenetics - study evolutionary relatedness among
groups of organisms
- Sequence divergence - used to
estimate time since lineages
diverged
- 3 domains of life: bacteria, archea, eukaryotes
- Analysis of a persons genome could lead to personalised medicine (pharmacogenetics)
- Difficulties in relating individual genome data to treatments and in
the complex nature of many diseases
- Comparing genes from different species reveals that many
genesare highly conserved across different organisms
- Key Area 4 - Cellular Differentiation
- Cellular differentiation -
cell develops more
specialised function
- Meristems are regions of
unspecialised cells in plants
- Can divide and differentiate into
specialised cells
- Apical: root tip and shoot tip
Lateral: between phloem and
xylem
- Stem cells are unspecialised somatic cells than divide
(self-renew) and differentiate into specialised cells
- Embryonic stem cells can differentiate into
all cell types (pluripotent)
- Adult stem cells have a narrower
differentiation potential, genes are
switched off (multipotent)
- Needed for growth, repair and renewal of tissues
- Ethical issues
regarding stem cells
- What's more important: Our duty to
prevent disease or respect the value of
human life?
- Should we allow healthy people to use
stem cells to change body characteristics?
- Stem cells might be bought and
sold illegally and treatment could
cost money
- Key Area 6 - Mutations
- Mutation are random, rare changes to
DNA sequences (ROLF)
- Single gene mutations - alter DNA
nucleotide sequence (DIGS)
- Substitution - A nucleotide is
removed and replaced by another.
Minor impact (missense). Major
impact if production or loss of a stop
codon (nonsense)
- Insertion - Add a nucleotide.
Deletion - removal of a
nucleotide. Frame-shift
mutations, all amino acids are
affected
- Splice-site - introns are
left in the mature mRNA
leading to an altered
protein
- Regulatory sequence mutations can
alter gene expression
- Mutations are important in evolution
- Chromosome mutations:
affect number and structure
of a chromosome (DICTD)
- Duplication - extra copies of genes on a chromosome.
Can be detrimental or important to evolution
- Deletion - detached genes are lost completely (cri du chat
syndrome)
- Translocation - detached genes join onto another chromosome
(1 type of Down syndrome)
- Inversion - Chromosome breaks in 2 places and rotates 180.
Results in infertility as gametes can't be formed
- Polyploidy - possession of extra
sets of chromosomes due to errors
during the seperation of
chromosomes during cell division
- Banana, potato, strawberry