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The enzyme moves along the strand, attaching loose RNA nucleotides to the DNA,
with A-U and C-G, until the whole gene is copied
This new RNA strand is called messenger RNA (mRNA)
A start codon and a stop codon determine the length of the gene
Transcription is the step in protein synthesis during which the gene produces a
complementary strand of mRNA
The mRNA then moves from the nucleus to the cytoplasm of the cell
Stage two: Translation:
The mRNA strands bind to a ribosome in the cytoplasm, with the start codon being
AUG (always).
The ribosome moves along the mRNA strand to read more of its bases
tRNA molecules floating in the cytoplasm, which have anti-codons complementary to
the codons of mRNA enter the ribosome. e.g. If the mRNA had an AAG codon, the
UUC tRNA would bind to it.
As the tRNA releases its amino acid to attach to the ribosome, it leaves to find another
amino acid. The ribosome can only accommodate 2 tRNA
The ribosome moves along the mRNA and more and more amino acids are attached
with peptide bonds on the growing polypeptide chain.
When a stop codon is reached, the polypeptide chain is released into the cytoplasm
for further processing to become a protein.
Translation is where the mRNA base sequence is translated into an amino acid
sequence of a polypeptide. Translation occurs in the cytoplasm of the cell on the
ribosomes
Some characteristics have more than two alternative forms and more than two alleles
In clover plants the pattern of chevrons on the leaves is controlled by seven different
allelic genes
Each plant inherits one gene from each parent for leaf pattern, but with seven alleles
to chose from, there are many possible genotypes and phenotypes
They have a total of 28 gene combinations, each giving a different phenotype
The inheritance of the D rhesus factor is entirely dependent of the ABO antigens and
is controlled by two alleles which show a simple dominant-recessive pattern
When describing a persons blood type, both the ABO and Rh classifications are
described. e.g. blood type AB+ means that the cells carry A, B and D. e.g. Blood
type A- means the cells carry antigen A only
Various symbols are used to denote the rhesus factor alleles, but the simplest system is
to use D for Rh+ and d for RhThe rhesus factor is inherited in a Mendelian pattern:
o Two dominant-recessive alleles only
The ABO blood types are inherited by a multiple alleles system:
o 3 alleles give 6 genotypes and 4 phenotypes
Poly = many
Genic = referring to genes
A polygenic trait is a characteristic which is controlled by many different, independent
genes
The classic example of polygenic inheritance in humans is the way that height is
inherited
How tall you grow depends on many factors, including:
o Environmental influences such as nutritional diseases during childhood
Blood types:
o A dominant IA
o B dominant IB
o AB dominant IAB
o A recessive IAi
o B recessive IBi
o AB recessive IABi
o O ii
An AB blood type person had sex with an O type person, gametes were:
o IA
IB
X
i
i
i
i
IA
IAi
IAi
IB
IBi
IBi
Therefore, the offspring were 50% A type recessive and 50% B type recessive
A normal body cell is called a somatic cell and is always diploid, meaning the
chromosomes are present in matching homologous pairs
During meiosis and the formation of gametes, the chromosome number is halved, and
each gametic cell contains only one chromatid from each original homologous pair of
chromosomes
A gamete cell, with half the diploid number of chromosomes, is said to be haploid
ggSs
GS Gs gS ss gs
gS gs
Gametes
gS
gs
GS
GgSS
GgSs
Gs
GgSs
Ggss
gS
ggSS
ggSs
gs
ggSs
ggss
Genotype ratio:
1:
2:
1:
1:
2:
1
GgSS GgSs Ggss ggSS ggSs ggss
Phenotype ratio:
3:
Green smooth
1:
Green wrinkled
3:
Yellow smooth
1
Yellow wrinkled
Linked genes have a higher likelihood of being inherited together (ending up on the
same gamete)
However, due to crossing over the genes may sometimes switch chromosomes and not
be inherited together
Strand of chromatid:
A
If two genes are next to each other on the chromosome, like A and B, they are very
unlikely to cross-over.
If the two genes are a long way apart like A and D then they are more likely to cross
over and be inherited separately
By looking at the degree of crossing over between genes in a cross breeding
experiment, we can pinpoint the relative position of the genes in the chromosome
e.g. gene W crosses over with gene Y 3% of the time, whereas gene Y crosses with
gene X 15% of the time and gene W and gene X cross over 12% of the time
Example:
F0
Green, Round
GG
Yellow, wrinkled
RR
gg
GR
rr
gr
F1
Gametes
Green, Round
Gg, Rr
F1 cross
Green, Round
Gg
Green, Round
Rr
Gg
GR
GR
Gr
gR
gr
F2
Green, round- 9
Green, wrinkled-3
Rr
Gr
gR
gr
Sometimes the genes are not contained on different chromosomes but on the same
chromosome are said to be linked. They do not sort independently but stay together
e.g. heterozygous grey (B) bodied normal (W) winged fly is crossed with a black (b)
bodied curved (w) winged fly
PARENT GENOTYPES:
GAMETES:
BbWw
BW
BW
BbW
bw
bbw
bw
bbww
bw
bw
bw
1
:
Grey
Normal
1
Black
Curved
Potential benefits:
Provide new insights into human evolution
o By comparing genomes of differing groups
Improved and more accurate diagnosis of genetic disorders
o It is possible to determine if an individual has the correct or mutated version
Identify the products of genes
o Makes it possible to infer how mutant alleles that cause genetic disorders
produce their undesirable effects and knowing the product of normal genes
will generate new treatments
Identifying genetic factors that predispose people to disabling conditions. e.g. strokes
and cancers
o Enables people at risk to be identified and treatment to reduce or prevent the
condition developing will be produced also
Development of new technologies. e.g. Polymerase chain reactions
o Enables a small amount of DNA to be multiplied many times and has enabled
tiny samples of tissue to be used for DNA testing
We know that less than 5% of all the DNA in the human genome is actually gene
coding for polypeptides. The rest seem to have no function.
The data from the Human Genome Project is in the form of a base sequence. e.g.
AGGCTATTC
A lot of the base sequence does not code for genes
o Therefore what are genes and what are not genes need to be determined
The data does not tell us what the genes do
Recombinant DNA simply refers to DNA molecules that have been chemically broken
up, then recombined with a new piece of DNA
Process:
1. The desired gene is cut from a chromosome using restriction enzymes. e.g. the
human insulin gene
2. A circular piece of DNA (a plasmid) is removed from bacterial cells (e.g. E-coli). It is
cut open with the same restriction enzyme used above
3. The plasmid and the other gene are mixed and joined. The enzyme DNA lignase
bonds the sticky ends
4. The recombant plasmid is introduced back into the bacterial cells by mixing with a
culture under the correct conditions
5. The recombinant plasmids are reproduced when the bacterial cells reproduce
6. The introduced gene will now be expressed by the bacterial cells (i.e. they will
produce the appropriate protein/polypeptide)