GENETICS - student notes 2015 · 2016-02-21 · ! 5 GENE SEQUENCING ! Developments in scientific...

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GENETICS TOPIC 3

Transcript of GENETICS - student notes 2015 · 2016-02-21 · ! 5 GENE SEQUENCING ! Developments in scientific...

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GENETICS

TOPIC 3

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3.1 – GENES ...................................................................... 1 3.2 – CHROMOSOMES ..................................................... 6 3.3 – MEIOSIS ................................................................. 12 3.4 – INHERITANCE ........................................................ 18 3.5 – GENETIC MODIFICATION and BIOTECHNOLOGY .......................................... 27 SAMPLE QUESTIONS ...... Error! Bookmark not defined.

TOPIC 3 – GENETICS

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3.1 – GENES !

GENES

• A gene is a _________________________________________

that consists of a length of ________ and influences a specific _____________________.

• A gene contains the _________________ required to produce a _____________________.

• All of the genes carried by an organism are collectively known as the _____________________.

• A gene occupies a specific position on a chromosome. • This is known as its _____________________

• The same _____________________ will always have the same _____________________

on the same _____________________.

• The various forms of a gene are known as _____________________. • Alleles of a gene always occupy the same _____________________ • Each gene is composed of _____________________. • These alleles may be the _____________________

or _____________________.

• Alleles differ from each other by _________________________________________________________.

! eg. AGTCACGGTACG = brown eyes allele (B) ! eg. AGTACAGGTACG = blue eyes allele (b)

• Only _________________________________________ have the exact same allele combinations, and there are still slight differences in their features (eg. mirroring).

_____________________._____________________

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! ! GENE MUTATIONS!

• Gene mutations __________________________________________. • Gene mutations are _____________________ in the

_____________________ (base) _____________________ of a gene

• eg. _________________________________________________ is caused by a gene mutation in coding for one of the _____________________ chains.

SICKLE CELL ANAEMIA • Haemoglobin is a protein • It is composed of _____________________ chains:

! 2 _____________________ chains ! 2 _____________________ chains

• The instructions for making haemoglobin therefore lie within ________________________. • Gene mutation affects the _____________________ chain of the haemoglobin protein • _______________________________ mutation in _____________________ in the beta

chain: ! Changes the DNA nucleotide sequence from _____________________ ! Changes the mRNA codon from _____________________ ! Amino acid changes from _____________________ to _____________________

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__________________________________________.

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GENE MUTATIONS

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• The resulting polypeptide is different. • Mutant haemoglobin (HbS)

_____________________ at ________ ________________________________ - eg. in the _____________________

• This causes the HbS blood cells to _____________________ change to a sickle shape.

• The sickle-cell blood cells can _____________________ the capillaries and are less _____________________ at ________________________________.

• Can result in acute anaemia,

heart damage, kidney damage, or even death.

• The sickle-cell trait is more common among in West-___________________ and African-American populations.

• ____________________________________ is advised for people in _____________________ families and _____________________ can be performed to check for disorder ___________________.

• Correlation between malaria and SC anaemia –

• Watch this: http://youtu.be/9UpwV1tdxcs

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GENOMICS

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HUMAN GENOME PROJECT • The entire base sequence of human genes was sequenced in the Human Genome Project. • _____________________ _____________________ is an area of science that is

concerned with _____________________ genomes from different _____________________.

• This allows researchers to gain a better understanding of _____________________ and the _____________________ of genes and _________________________________________ of the genome.

• They will look at things like DNA base sequence, position of genes, etc.

• The genomes of _____________________ have been sequenced in recent years. • Also allows specific _____________________ to be compared across species. COMPARISON OF NUMBER OF GENES IN DIFFERENT ORGANISMS

Organism Estimated number of genes

Number of chromosomes

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GENE SEQUENCING

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Developments in scientific research follow improvements in

technology • Gene sequencers are used for the sequencing of genes.

• There are now lots of _____________________ that store this info: ! eg. the _____________________ database

• “The Genbank® database can be used to search for DNA base sequences. The _____________________ gene sequence is available for many different organisms and is of particular interest because of its use in _____________________ organisms into three domains.”

• http://blast.ncbi.nlm.nih.gov/Blast.cgi

• Complete relevant practice Qs beginning on Page 39

Developments in scientific research follow improvements in Developments in scientific research follow improvements in technology• Gene sequencers are used for the sequencing of genes.!

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3.2 – CHROMOSOMES !

PROKARYOTIC CHROMOSOMES

EUKARYOTIC CHROMOSOMES

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CHROMOSOME COMPARISON

• The prokaryotic chromosome is located i

n the _____________________. • Prokaryotes have

_____________________________ consisting of a __________________________ molecule.

• Some prokaryotes also have _____________________ (eukaryotes do not) ! Plasmids are _____________________

of DNA that can be passed between organisms

• There are _____________________ within prokaryotic chromosomes.

• The eukaryotic chromosomes are located in the

_____________________. • Eukaryotes have _____________________

_____________________ consisting of a _____________________ molecules. ! each chromosome

carries __________________________________ • There are ____________________________________

associated with the eukaryotic chromosomes.

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HOMOLOGOUS CHROMOSOMES

• Homologous chromosomes are chromosomes that share the same ____________________

features and the same _____________________ of _____________________, but may have a different combination of _____________________

• Haploid nuclei:

! _____________________ of chromosomes (one from each pair)

! In humans, _____________________ ! In humans, _____________________ (sperm & ova)

are haploid • Diploid nuclei:

! _____________________ of chromosomes (pairs of homologous chromosomes)

! In humans, _____________________ ! In humans, all _____________________ (other than

gametes) are diploid

• The number of chromosomes is a characteristic feature of members of a species:

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THE CAIRNS’ TECHNIQUE

Developments in scientific research follow improvements in technology • Autoradiography was used to establish the length of DNA

molecules in chromosomes.

• The Cairns’ technique is used for _____________________ the _____________________

of _______________________________. • Hugh John Forster Cairns used ____________________________ to demonstrate that

_____________________ _____________________ a _____________________, _____________________ molecule of DNA.

• Cairns used _____________________ _____________________ to “_________________” the DNA so that he could _____________________ _____________________ in the bacterium.

• The image produced on a photographic plate by radioactivity is called an _____________________

• He observed how cycles of replication occur in bacterium. • He also used the technique to _____________________ the _____________________ of

DNA molecules

Developments in scientific research follow improvements in technology• Autoradiography was used to establish the length of DNA

molecules in chromosomes.

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GENOME SIZE

• The total number of ____________________________________________________

within one copy of a single genome

• Note that: ! Genome size does not correlate with _____________________ ! Genome size does not correlate with _______________________________________

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KARYOTYPING

• Karyotyping is the process of _____________________ the chromosomes

_____________________ according to their _____________________. • Chromosomes have _________________________________________________________

if they are _____________________ with _____________________. • Chromosomes are easily identifiable and are arranged depending upon:

! their _____________________ ! the _____________________ of their _____________________ ! their __________________________________________

• Can be used to detect _____________________ _____________________ in

_____________________. • Utilises foetal DNA obtained using _____________________ _____________________

_____________________ or _____________________ • Can also be used in _____________________ _____________________.

• A _____________________ shows the karyotype of a cell. • A karyogram is a _____________________ or diagram of stained chromosomes, arranged

in pairs in order of their size. • It indicates the _____________________ of _____________________ present and

_____________________ of the individual. • It can be used to test for chromosomal abnormalities involving _____________________ or

_____________________ chromosomes: ! eg. ___________________________________ (three copies of _________________)

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AUTOSOMES & SEX CHROMOSMES

USING GENETIC DATABASES !!

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• Autosomes:

! _____________________ (44 total) ! Determine _____________________ characteristics

• Sex chromosomes:

! _____________________ ! May or may not be _____________________ (XX vs XY) ! Determine sex of individual

_____ = female _____ = male

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• http://www.ncbi.nlm.nih.gov/gene

• Use NCBI to search for the location of the following genes:

! BRAC1 – early onset breast cancer gene ! MT-CO1 – mitochondrially encoded cytochrome c oxidase I ! TTN - titin

• Complete relevant practice Qs beginning on Page 40. !

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3.3 – MEIOSIS !

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• Meiosis is a _____________________ _____________________ of a

_____________________ _____________________ to form _____________________ _____________________ _____________________.

Making careful observations • Meiosis was discovered by microscope examination of dividing

germ-line cells.

• First observed in ________ by Oscar Hertwig, as he studied sea urchin eggs under a

microscope. • Eduord van Beneden observed the behaviour of chromosomes during meiosis in the eggs of

parasitic worms. • In 1890, August Weismann observed the _____________________ needed to complete the

division of eggs. • The term meiosis was first used in ___________.

• The halving of the chromosome number ____________________ ____________________

of the DNA with _____________________ of gametes during _____________________. • Occurs in the diploid _____________________ in the gonads (testes & ovaries) • Meiosis involves _____________________ - Meiosis I and Meiosis II • Produces _____________________ (sex cells – sperm or ova) • Gametes are _____________________ and _____________________ to original cell

• DNA is _____________________ before meiosis so that all chromosomes consist of __________________________________________.

Making careful observationsMaking careful observations• Meiosis was discovered by microscope examination of dividing

germ-line cells.!

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MEIOSIS I!

1

• Interphase

! DNA _____________________ and _____________________ of the cell

• Prophase I ! Homologous chromosomes pair up (now called a _____________________). ! _____________________ _____________________ may occur:

_____________________ _____________________ may cross over at points (called _____________________) and _____________________ genetic material

! _____________________ _____________________ forms ! The _____________________ _____________________ breaks down.

• Metaphase I

! Homologous pairs _____________________ _____________________ at _____________________.

! Maternal and paternal chromosomes of each pair line up _____________________ of other pairs = __________________________________________.

! This greatly _____________________ _____________________ _____________________ in the gametes.

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MEIOSIS I!

2

• Anaphase I ! The microtubules _____________________. ! _____________________ _____________________ _____________________ and

move towards opposite poles. ! The chromosome number is halved from _____________________ to

_____________________. ! _____________________ _____________________ occurs if they

_____________________ separate

• Telophase I + Cytokinesis ! Spindles break down. ! ______________________________________________________ forms around each

new nucleus. ! Two new haploid cells form. ! Each chromosome still has _____________________________________ at this point.

CROSSING OVER & RECOMBINATION • Occurs in _____________________ • Sections of _____________________ chromatids

may touch (cross over). • This point is called a _____________________

(pl. chiasmata). • Sections of the chromosomes may be

_____________________ between the non-sister chromatids.

• This produces _____________________ _____________________ (ie. unlike either parent chromosome)

• _______________________________________

CHROMOSOMAL NON-DISJUNCTION • Occurs in _____________________ • Homologous chromosomes __________________________________________ properly. • This is a form of chromosomal _____________________. • Extra or fewer chromsomes are drawn to each pole and packaged into the new cells. • Results in _____________________ (3 copies) or _____________________ (1 copy)

! eg. Down Syndrome = _____________________ • The chance of non-disjunction increases with ____________________________________.

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MEIOSIS II!

1

• Prophase II

! New _____________________ microtubules form in each of the two cells. ! The spindles form at _____________________ _____________________ to the

original division. ! The nuclear envelope breaks down.

• Metaphase II

! _____________________ _____________________ line up at _____________________.

! Spindle fibres attach to each _____________________ at the _____________________.

• Anaphase II ! The microtubules contract. ! _____________________ _____________________ _____________________ and

move towards opposite poles.

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MEIOSIS II!

MEIOSIS PROMOTES GENETIC VARIATION !!

2

• Telophase II + Cytokinesis

! Spindles break down. ! New nuclear envelopes form around each new nucleus. ! The chromosomes _____________________. ! ___________________________ cells form.

• Each cell formed is __________________________________________.

• Watch this: https://youtu.be/eaf4j19_3Zg?t=15s

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• Each chromosome of the homologous pair carries _____________________

_____________________. • Homologous pairs _____________________ and _____________________

_____________________. • _________________________________ may occur during _____________________

leading to entirely __________________________________ of alleles. • There is _____________________ of gametes from different parents during fertilization.

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DOWN SYNDROME!!!!!!!!!

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• Down syndrome is a condition resulting from a __________________________ in the chromosome 21 homologous pair.

• It is also called _____________________. • _____________________ can be used to detect Down syndrome in foetuses. • The process utilises foetal DNA obtained using _____________________

_____________________ _____________________ (CVS) or _____________________. • New techniques use a __________________________________________ to access foetal

DNA.

• Chorionic Villus Sampling

! _____________________ of pregnancy ! Sample of the chorionic villi (from the _____________________ ) is taken ! A karyogram is made & analysed ! Procedural risk is _____________________

• Amniocentesis ! _____________________ of pregnancy ! Sample of ____________________________________ (contains foetal cells) is taken ! A karyogram is made & analysed ! Procedural risk is _____________________

• Non-Invasive Prenatal Testing (NPT) ! _____________________ of pregnancy (usually before end of 2nd trimester) ! Examines DNA from the unborn baby ________________ in the mother’s bloodstream ! A karyogram is made & analysed ! Procedural risk is _____________________

• All women are at risk of having a baby with Down syndrome, although the risk increases with

the age of the woman. • If the mother is _____________________, prenatal testing is strongly encouraged. • Complete relevant practice Qs beginning on Page 41.

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3.4 – INHERITANCE !

MENDELIAN INHERITANCE

GENETIC DEFINITIONS

• _____________________ _____________________ discovered the principles of

inheritance with experiments in which large numbers of _____________________ were crossed.

Making quantitative measurements with replicates to ensure reliability • Mendel’s genetic crosses with pea plants generated numerical

data.

1

• _____________________:

! the _____________________ of an organism. ! Can be _____________________ or _____________________.

• _____________________: ! the _____________________ of an organism. ! Phenotype = ______________________________________ of __________________

• _____________________ allele:

! an allele that has the _____________________ _____________________ on the _____________________ whether there are _________________________________ present.

! Represented with an __________________________________________ • _____________________ allele:

! an allele that only has an effect on the phenotype when _____________________ are present.

! Represented with a __________________________________________

inheritance with experiments in which large numbers of _____________________ were crossed.

Making quantitative measurements with replicates to ensure

3.4 – INHERITANCE!

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GENETIC DEFINITIONS

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2

• _____________________:

! Two _____________________ _____________________ of a gene. ! Can be _____________________ _____________________ (_____)

or _____________________ _____________________ (_____). • _____________________:

! Two _____________________ _____________________ of a gene. ! __________________________________________________________

in the heterozygous genotype (______) will be _____________________.

Inheritance can be: • _____________________ _____________________:

! One allele can _____________________ another. ! eg. Brown allele (B) always expressed when present

• _____________________: ! Pairs of alleles that _____________________ _____________________ the

_____________________ when present in a _____________________. ! eg. __________________________________________ from A and B alleles ! eg. red allele + white allele = _____________________ phenotype

• Please note: the term incomplete dominance is no longer used • _____________________:

! the _____________________ of a _____________________ on homologous chromosomes.

• _____________________: ! an individual that has _____________________ of a _____________________ allele

that causes a _____________________ _____________________ in individuals that are homozygous for this allele.

! Will show _____________________ of the disorder, but can _____________________ to the next generation.

• _____________________:

! testing a _____________________ heterozygote by crossing it with a _____________________ _____________________ _____________________.

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GAMETES & INHERITANCE

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PUNNETT SQUARES

3

• Gametes are _____________________ so contain only _____________________ of each

gene. • The two alleles of each gene _____________________ into different haploid

_____________________ _____________________ during _____________________. • _____________________ of

_____________________ results in _____________________ _____________________ with two alleles of each gene that may be the same allele or different alleles.

• Punnett square:

a way of finding the _____________________ _____________________ of the _____________________, given certain parental phenotypes

• Steps: 1. Identify parental genotypes 2. Identify possible gametes ! add to column/row headers 3. Do the cross – determine possible genotypes of offspring 4. Work out the F1 genotype ratio (eg. 1:2:1, 25%:50%:25%) 5. Work out the F1 phenotype ratio (eg. 1:2:1, 25%:50%:25%)

• Example: ! App: Gene Screen

If we start with a pure bred tall plant and a heterozygote, what will be the phenotype & genotype ratios of the offspring?

• Let T = Tall; t = not tall ! Parents: TT and Tt ! Gametes: _____________________

! F1 genotype ratio: _____________________________________________________ ! F1 phenotype ratio: _____________________

• Complete practice Q1-3 beginning on Page 42

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MULTIPLE ALLELES

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• Some genes have more than two alleles (ie. multiple alleles).

• eg. ABO blood grouping

! Controlled by 3 alleles: " _____________________ " _____________________ and " _____________________

• 2 of the alleles show _____________________ dominance:

! means that _____________________ alleles affect the phenotype and _____________________ is dominant or recessive

! _____________________ ! _____________________ _____________________ (symbols) given because of

codominant type of inheritance " _____________________ letter with allele _____________________

• 2 of the alleles show _____________________ dominance also:

! means that only the _____________________ allele will be expressed in the phenotype

! !A and !B are ___________________________________________________________ ! specific notation given because of complete type of inheritance

" _____________________ letters for base and _____________________ alleles " _____________________ for _____________________

• Allows for six genotypes and four phenotypes:

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• Complete practice Q4-5 beginning on Page 43 !

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SEX DETERMINATION & LINKAGE

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• Sex determination:

! All _____________________ contain an _____________________

! _____________________ contain either an _____________________ chromosome

" XX ! _____________________ " XY ! _____________________

! There is a _____________________ chance in every _____________________ _____________________ of a child being a boy or a girl.

• Sex linkage: ! when a gene controlling a characteristic is found on a

__________________________________________

• Sex-linked genes: ! Some genes are present on the X chromosome that are

_____________________ from the shorter Y chromosome in humans. ! This means that most sex-linked conditions are usually _____________________. ! Special notation is used for X-linked genes:

" eg. __________________________________________ ! Please note: as the Y chromosome have no corresponding alleles, they are not given

a superscript allele " eg. __________________________________________

! Females can be homozygous or heterozygous with respect to x-linked traits:

" Homozygous _____________________ " Heterozygous _____________________

! Males only have one X chromosome.

They __________________________________________. They are either _____________________ or _____________________.

" Unaffected _____________________ " Affected _____________________

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PEDIGREES!

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• Genetic family tree • Gives clues about the type of inheritance:

! _____________________ or _____________________ ! _____________________ or _____________________

• Things to look for:

! Gender bias of males : females (!_____________________) ! Generation skipping (!_____________________) ! Affected sons from affected fathers (!_____________________)

• Complete practice Q6-8 beginning on Page 43 !

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GENETIC DISEASES

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1

• Many genetic diseases have been identified in humans but most are

_____________________. • Many genetic diseases in humans are due to _____________________ alleles of

_____________________ genes, although some genetic diseases are due to _____________________ or _____________________ alleles.

• As stated previously, some genetic diseases in human are also due to alleles of _____________________ genes.

• Cystic fibrosis (CF) ! caused by inheritance of an _____________________ _____________________

allele on _____________________ ! the most common, genetically acquired, _____________________

_____________________ illness ! people with CF develop an abnormal amount of excessively thick and sticky

_____________________ within the lungs, airways and the digestive system ! affects 1 in every _____________________ births and

_____________________ people are _____________________

• Huntington’s disease (HD) ! caused by inheritance of an _____________________ _____________________

allele on _____________________ ! rare disease, affecting ~1 in _____________________ people ! the _____________________ region of _____________________ gene contains the

DNA sequence "___________________ " _____________________ again and again ! mutation of huntingtin gene causes an _____________________ in the

_____________________ of CAG repeats from _____________________ times to _____________________ times

! the disease ___________________________________________________________, the part of the brain that controls _____________________, _____________________, and __________________________________________

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GENETIC DISEASES

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2

• Red-green colour blindness ! App: ColorTest

! caused by inheritance of a _____________________ _____________________ allele ! relates to ability to make _________________________________________________ ! affected individuals are unable to distinguish between red and green ! _________________________________________________ of sex-linked disorders,

but females can

• Haemophilia ! caused by inheritance of a _____________________ _____________________ allele ! relates to ability to make a ________________________________________________ ! results in _____________________ _____________________ both internally and

externally ! ______________________________________________________________ of

sex-linked disorders, but females can ! _____________________________________________________________________

– it is a _____________________ _____________________ in utero, resulting in _____________________

• Complete practice Q6-8 beginning on Page 45 !!

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MUTATION RATES

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• Mutations can occur at any time in any organism. • _____________________ mutation rates tend to be low but some ____________________

_____________________ can increase the _____________________ and _____________________ of mutations.

• _____________________ (eg. from nuclear power plants, UV light, x-rays) and _____________________ _____________________ (eg. benzene, tobacco tar) increase the mutation rate and can cause genetic diseases and cancer.

• The mutation rates have been tracked after nuclear catastrophes in recent history: ! eg. Bombing of __________________________________________ in Japan in

August __________________ ! eg. Nuclear accident at __________________________________________ in USA in

__________________ ! eg. Nuclear accident at _____________________ in Ukraine in __________________ ! eg. Nuclear accident following a major earthquake at the _____________________

nuclear facility in Japan in __________________

• Significant increases in the rates of _____________________ among people who were affected by the _____________________ _____________________ have been noted.

• The radioactive fallout is _____________________ to the site of the blast. • eg. Incidence of _____________________ cancer in children has risen in

_____________________ following the Chernobyl disaster, but it has also risen significantly in neighbouring _____________________

• Effects are not limited to humans. ! eg. Fukushima’s ___________________

_____________________

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3.5 – GENETIC MODIFICATION and BIOTECHNOLOGY

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TOOLS OF THE TRADE!

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RESTRICTION ENZYMES • Enzymes which _____________________ a _____________________

_____________________ base sequence of DNA • They _____________________ at a _____________________ point in this sequence • Create “__________________________________________” with known DNA sequences

that can be utilised for genetic engineering ! eg. HindIII, _____________________

REVERSE TRANSCRIPTASE • It _____________________

__________________________! • Enzymes which can cause a pieces _____________

to produce a _____________________ piece of _____________

• The DNA can then be made _________________- _____________________ and used to _____________ a genetic characteristic to another organism

• DNA made is called ____________________________

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TOOLS OF THE TRADE!

2

DNA POLYMERASE • Enzyme used for _____________________ _____________________

_____________________ of _____________________ • Enzyme _____________________ _____________________ -_____________________

_____________________ to be made _____________________ -stranded • Also allows small DNA samples to be _____________________ so that they can be

_____________________ multiple times if necessary ! eg. DNA from an _____________________ during ____________________________,

DNA from a _________________________

DNA LIGASE • Enzyme used for _____________________ pieces of DNA which are being

_____________________ together ! ie. genetic “_____________________”

• Allows an _____________________ or _____________________ piece of DNA to be joined to the DNA of a _____________________ organism.

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TOOLS OF THE TRADE!

3

GENE PROBES • _____________________ -_____________________ DNA used

to _____________________ genes with base sequences _____________________ to the probe.

• Probes are made using _____________________ _____________________ _____________________.

• Probes are _____________________ _____________________ so that where the probe pairs with the gene, the probe and the _____________________ can be identified.

MARKER GENES • Genes that are _____________________ to the

_____________________ being studied that produce an _____________________ _____________________ so it can be easily identified.

• Presence of the marker _____________________ that the _____________________ gene has _____________________ been inherited.

• In genetic engineering, a gene is normally introduced into an organism together __________________________________________.

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POLYMERASE CHAIN REACTION (PCR)

!

• Polymerase Chain Reaction (PCR) is a way of _____________________ (producing large

quantities) of a _____________________ _____________________ sequence of DNA • It is useful when only a _________________________________________ of DNA is

available for testing ! eg. __________________________________________ of blood, semen, tissue, hair,

etc.

• Process of PCR: 1. _____________________: heat the DNA

! __________________________________________ 2. _____________________: attach ________________________________________

! _____________________ target sequence 3. _____________________: use __________________________________________

! replicates the sequence

• One cycle ! yields _____________________ DNA copies • _____________________ ! _______________________________________ DNA copies

!

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GEL ELECTROPHORESIS

!

• Gel electrophoresis is used to _____________________ proteins or

_____________________ of DNA according to _____________________.

• Process: 1. DNA fragmented with _____________________ _____________________ 2. Loaded into a ______________ and an _____________________________________

is applied 3. DNA moves towards the _____________________ 4. The fragments are _____________________ according to their size ! small fragments move _____________________, separate further

!

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DNA PROFILING

!

• __________________________________________ is used in DNA profiling. • DNA profiling involves __________________________________________.

• DNA profiling allows individuals to be _____________________ on the basis of their DNA profiles.

• Non-coding regions of an individual's genome contain ______________________________ - long stretches of DNA made up of _____________________ _____________________ called _______________________________________________________________

• These repeating sequences can be _____________________ to form _____________________, by _____________________ with a variety of _____________________ _____________________.

• As individuals all have a _____________________ number of repeats, they will all generate _____________________ fragment profiles.

• These different profiles can be _____________________ using gel electrophoresis.

• The gel electrophoresis identifies an individual’s ___________________________________ • Restriction enzymes (endonucleases) target non-coding elements (STRs) that differ in length

in individuals • It can be used to _____________________ _____________________ and also be used in

_____________________ _____________________

• Complete the relevant practice Qs beginning on Page 46 !!

!

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GENE TRANSFER

!

• _____________________ _____________________ is carried out by gene transfer

between species. • Genes are able to be transferred between species because the

_______________________________________________________________. • This means that the ____________________________ sequence of proteins

_____________________ from them is _____________________.

• Process: 1. _____________________ removed from bacterial cell

! Plasmids are ______________________________________ rings of DNA 2. Gene of interest removed from organism gene amplified with _______________ 3. Gene of interest _____________________ into plasmid

! Gene and plasmid cut with _____________________ __________________________________________

! This creates _____________________ _____________________________ like a puzzle

! _____________________ (glued) together with _________________________ 4. _____________________ plasmid inserted into _____________________ cell

! The _____________________ cells should _____________________ the _____________________

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GENETICALLY MODIFIED CROPS & ANIMALS

1

• Crop plants and domestic animals have been modified over generations using

_____________________ _____________________, to produce organisms with desirable characteristics.

• _______________________________________________________________ can now be used to alter the genetic make-up of organisms much ______________________________.

• Some _____________________ _____________________ _____________________ are already being produced. In 2006, 252 million acres of transgenic crops were grown globally.

• Examples of the current uses of genetically modified crops or animals include: !

! sheep that produce human blood clotting factor IX in their milk ! synthesis of beta-carotene in Golden RiceTM

(vitamin A precursor so ups nutritional value) ! herbicide resistance in crops ! salt tolerance in plants ! delayed ripening in Flavr-Savr™ tomatoes ! bacteria use to produce insulin and clotting factor VIII

• Issues surrounding GM organisms:

Assessing risks associated with scientific research • Scientists attempt to assess the risks associated with genetically

modified crops or livestock.

Assessing risks associated with scientific research• Scientists attempt to assess the risks associated with genetically

modified crops or livestock.!

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GENETICALLY MODIFIED CROPS

!

2

• Potential benefits:

! __________________________________________ (lessen food shortages) ! Higher yields = __________________________________________ for farming ! _______________________________________________________________ ! Less expenditure, __________________________________________

• Potential risks: ! May have _____________________________________________________ (allergy?) ! Toxin may ____________________________________________________________ ! __________________________________________ to weeds ! _____________________ _____________________

• Example:

! Maize crops are often seriously damaged by corn borer insects. A gene from a _____________________ (Bacillus thuringiensis) has been transferred to _____________________. The gene codes for a bacterial protein called _____________________ that kills corn borers feeding on the maize.

! Insects that are not pests could be ______________________________________. Maize pollen containing the toxin is blown onto _____________________ growing near the maize. Insects feeding on the wild plants (eg. _____________________), including _______________________________________________________________, are therefore affected even if they do not feed on the maize.

! Crops like Bt corn are genetically engineered

to _________________________________________ ! The resulting increased use of weedkillers have all but

exterminated milkweed ! Milkweed is the only plant used by Monarch

butterflies to ________________________, and Monarch caterpillars to ___________. ! As of January 2014, the Monarch population is at its _____________________ point in

history.

! Analysis of data on risks to monarch butterflies of Bt crops " Read this: http://news.nationalgeographic.com.au/news/2014/08/140819-

monarch-butterfly-milkweed-environment-ecology-science/ " Watch this: https://www.youtube.com/watch?v=7vMotTl3we0

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CLONING

1

• A clone is a group of ________________________________________________________,

derived from a __________________________________________________________ cell

• Many plant species and some animal species have natural methods of cloning. ! eg. ______________________________________

are naturally-occurring clones ! eg. ______________________________________

are also examples of clones. ! eg. ______________________________________

is an example of cloning • _____________________ and _____________________

cloning techniques have been developed by scientists to clone organisms and treat conditions

Reproductive cloning: • Scientists can use genetic technologies to clone _____________________ organisms; this

is known as reproductive cloning. • Animals can be cloned at the _____________________ stage by _____________________

up the embryo into more than one group of cells. • Methods have been developed for cloning adult animals using _____________________

cells.

• Process: 1. Cells are removed from _____________________ organisms:

! Species 1 – __________________________________________________________ ! Species 2 – __________________________________________ from cell

2. Cells are _______________________________________________________________ (“electro-fusion”)

3. Reconstructed cell is _____________________ into the _____________________ of a _____________________ _____________________ mother and forms an _____________________

4. A _____________________ of the _____________________ organism will be born.

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CLONING

2

Therapeutic cloning: • Scientists can use genetic technologies to produce _____________________,

_____________________ and _____________________. • This is known as therapeutic cloning or non-reproductive cloning. • The process requires the use of _____________________ and thus, is very controversial.

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STEM-CUTTINGS

!

• You need to be able to design of an experiment to assess one factor affecting the rooting of

stem-cuttings. • A plant species should be chosen that forms roots readily in water or a solid medium. • eg. lima bean plants

• eg. Does the position of the cut affect the rate of growth? • eg. Does the depth to which the cutting is planted affect the rate of growth? • eg. Does exposure to auxin affect the rate of growth? • eg. Does the age of the original plant affect the rate of growth of the cutting?

• Complete the relevant practice Qs beginning on Page 46 !!

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!

!

SAMPLE QUESTIONS !

GENES

!

Q1 What is the difference between the alleles of a gene?

A. Their position on the chromosome B. Their amino acid sequence C. Their pentose sugars D. Their base sequence

Q2 Which of the following is the cause of sickle-cell anemia?

A. Tryptophan is replaced by leucine. B. Leucine is replaced by valine. C. Glutamic acid is replaced by valine. D. Lysine is replaced by glutamic acid.

Q3 Explain the causes and consequences of sickle-cell anemia. (5 marks) """"""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

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CHROMOSOMES!

!

!

Q1 In the following diagram, which pair represents homologous chromosomes?

A. 1 and 2 B. 3 and 4 C. 2 and 5 D. 4 and 6

Q2 If the haploid number of a species is 28, how many chromatids will there be in the diploid

cell? A. 7 B. 14 C. 28 D. 56

Q3 The karyogram below shows the chromosomes from a person with Down syndrome.

[Source: U.S. Department of Energy Human Genome Program

(genomics.energy.gov, genomicscience.energy.gov)]

a) State the evidence provided by the karyogram that shows this person has Down

syndrome. (1) b) State the gender of this individual and explain your answer. (2)

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MEIOSIS!

!

Q1 If the haploid number of a cell is represented by the letter X, what would be the number of

chromosomes in the cells at the end of the first division of meiosis be? A. 4X B. X C. 2X D. 0.5X

Q2 If the haploid number of a species is 14, how many chromatids will there be in metaphase I

in a dividing diploid cell? A. 56 B. 7 C. 28 D. 14

Q3 What is chorionic villus sampling? A. Sampling cells from the foetal digestive system B. Sampling cells from the placenta C. Sampling cells from the amniotic fluid D. Sampling cells from the umbilical cord

Q4 Outline how Down syndrome occurs due to meiosis. (2 marks) """"""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

!

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INHERITANCE!

!

1

Q1 In Drosophila melanogaster (common fruit fly), the allele for yellow-brown body colour (E) is

dominant over an ebony coloured body colour (e). A homozygous recessive female with an ebony body is crossed with homozygous dominant male.

c) What is the expected F1 genotype frequency? d) What is the expected F1 phenotype frequency?

Q2 In Drosophila melanogaster (common fruit fly), the allele for yellow-brown body colour (E) is dominant over an ebony coloured body colour (e). A homozygous recessive female with an ebony body is crossed with a heterozygous male.

a) What is the expected F1 genotype frequency? b) What is the expected F1 phenotype frequency?

Q3 In Drosophila melanogaster (common fruit fly), the allele for yellow-brown body colour (E) is dominant over an ebony coloured body colour (e). A heterozygous female with an ebony body is crossed with a heterozygous male.

a) What is the expected F1 genotype frequency? b) What is the expected F1 phenotype frequency?

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INHERITANCE!

!

2

Q4 A female heterozygous for blood type is crossed with a male who is also heterozygous for

blood type. a) What is the expected F1 genotype frequency? b) What is the expected F1 phenotype frequency?

Q5 If a man has blood group O and a woman has blood group AB, what is the probability their child will be blood group O?

E. 0% F. 50% G. 100% H. 25%

Q6 The pedigree chart shows the blood types of three members of a family.

Which could be the blood types of individuals 1 and 2? Individual 1 Individual 2

A. A AB B. AB B! C. O B D. B A

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INHERITANCE!

!

3

Q7 The ACHOO syndrome is an inherited condition that leads to sneezing in response to bright

light and is hypothesized to be inherited in an autosomal (not sex-linked) dominant fashion. The following is a pedigree chart that shows three generations from one family.

[Source: “Autosomal dominant pedigree chart. In Autosomal Dominance the chance of receiving and

expressing a particular gene is 50% regardless of the sex of parent or child.” Jerome Walker. 22 July 2006.]

What evidence from the pedigree chart confirms that the ACHOO syndrome is not X-linked dominant?

A. Four females in the pedigree chart are affected and X-linked conditions do not affect females.

B. There is an affected male in generation II. C. There is an affected female in generation II. D. If the condition is X-linked dominant, the affected mother in generation II could not

produce an unaffected son.

Q8 The pedigree chart shows the blood types of three members of a family. Which could be the blood types of individuals 1 and 2?

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INHERITANCE!

!

4

Q9 In the following human pedigree, the filled symbols represent the individuals affected by

Huntington’s disease (HD).

a) What is the most likely mode of inheritance for this pedigree? b) State the genotypes of individuals # 1-5 in the following table using the letter ”H”. Use

the uppercase letter to represent the dominant allele and lowercase letter to represent the recessive allele.

c) If individuals # 2 and 3 have another son what are the chances that this son will have HD?

Q10 A boy inherited red-green colour-blindness from one of his grandfathers. Deduce, giving your reasons, which of his two grandfathers was also colour-blind. (3 marks)

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

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GENETIC MODIFICATION & BIOTECHNOLOGY Q1 Is the man the child’s father?

Q2 a) State the name of the technique that is used to

separate fragments of DNA according to their size, during DNA profiling. (1) """"""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""

b) The diagram below represents the results of a paternity investigation. Track A is the profile of the mother of a child, track B is the profile of the child and track C is the profile of a man who might be the father. Explain, using evidence from the diagram, whether this man is the father or not. (3)

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""

"""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""

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GENETIC MODIFICATION & BIOTECHNOLOGY Q3 Outline the method that can be used to amplify small quantities of DNA to obtain large

enough quantities for DNA profiling. (2)

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

!

Q4 Describe a technique used for gene transfer. (5)

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""!

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Page 50: GENETICS - student notes 2015 · 2016-02-21 · ! 5 GENE SEQUENCING ! Developments in scientific research follow improvements in technology • Gene sequencers are used for the sequencing

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! 48

GENETIC MODIFICATION & BIOTECHNOLOGY

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Q5 Using a named example, discuss the benefits and harmful effects of genetic modification.

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