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biology
component 2
application of reproduction and genetics
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Cards (111)
What is the purpose of the Human Genome Project?
Improve knowledge of
genetic disorders
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When did the Human Genome Project begin and end?
1990
to
2003
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What did the Human Genome Project discover about DNA?
Order of DNA bases in
genomes
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What is Sanger Sequencing?
A method to read
DNA
base sequences
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How long did it take to sequence a million base pairs using Sanger Sequencing?
One
year
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What is Next Generation Sequencing (NGS)?
Faster techniques to sequence
entire
genomes
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What was the aim of the 100K Genome Project?
Sequence
100,000
genomes from NHS patients
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What can be located using the 100K Genome Project?
Genes
responsible for
rare diseases
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How does genetic screening assist couples?
Allows
informed
decisions before having children
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What ethical issues arise from genetic screening?
Potential
discrimination
based on genetic information
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What is a concern regarding embryo screening?
Choosing
alleles
for specific
characteristics
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What is cystic fibrosis caused by?
Homozygous
autosomal recessive allele
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What are symptoms of cystic fibrosis?
Difficulty
breathing
and recurrent
infections
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How can carriers of cystic fibrosis be identified?
Through
blood tests
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What is the role of PCR in DNA analysis?
Amplifies specific DNA
fragments
rapidly
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What happens during the separation stage of PCR?
DNA is heated to break
hydrogen bonds
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What occurs during the annealing stage of PCR?
Primers
bind to
complementary
DNA strands
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What is the purpose of the extension stage in PCR?
Add
complementary
nucleotides
to DNA strands
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What is a limitation of PCR?
Contamination
can affect results
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What is gel electrophoresis used for?
Separating
DNA fragments
by size
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How do DNA fragments move in gel electrophoresis?
They move towards the
positive electrode
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What are short tandem repeats (STRs)?
Repeating blocks of
non-coding DNA
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How are STRs used in DNA profiling?
To create unique
genetic fingerprints
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What is genetic engineering?
Manipulating
or altering
DNA
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What are the main applications of DNA profiling?
Determining
zygosity
in
twins
Identifying
blood relatives
Phylogenetic studies
Paternity testing
Immigration verification
Forensic investigations
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What are the limitations of PCR?
Contamination can occur
High sensitivity to
inhibitors
Error rate due to
Taq polymerase
Limits on amplification after
20 cycles
Inefficiency with
large DNA fragments
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What are the steps involved in PCR?
Separation: DNA heated to
95°C
Annealing: Cooling to 50-60°C for
primer
binding
Extension: Heating to 70°C for
nucleotide
addition
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What is the significance of the Anopheles gambiae genome sequencing?
Helps develop insecticides
Aids in malaria control
Understands
evolutionary
relationships
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What are the implications of the 100K Genome Project data?
Future uses are
uncertain
Ethical
considerations
are necessary
Legal responsibilities need clarification
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What are the effects of cystic fibrosis on the body?
Mucus blocks
airways
Causes breathing
difficulties
Leads to recurrent infections
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How does genetic screening benefit prenatal diagnosis?
Identifies
alleles
causing disorders
Informs parents about
genetic risks
Aids in decision-making for pregnancies
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What are the ethical concerns regarding genetic information?
Potential
discrimination
in
insurance
Anxiety from knowing genetic risks
Issues with embryo selection
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What is the role of DNA ladders in gel electrophoresis?
Contains known
DNA fragment sizes
Helps determine
sample DNA lengths
Used for comparison with
unknown samples
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What is the significance of STRs in DNA profiling?
Unique to individuals
More variation in introns than exons
Used to
differentiate
between samples
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What are the applications of genetic engineering?
Altering
DNA sequences
Transferring
genes
between
organisms
Developing genetically modified organisms
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What is the significance of the same position and width of bands in DNA profiling?
It indicates a
match
between DNA samples
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What are some applications of DNA profiling?
Determining
monozygotic
or
fraternal twins
Identifying blood relatives for adopted individuals
Conducting
phylogenetic
studies
Performing
paternity testing
Assisting in
immigration cases
Forensic investigations
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What is the purpose of DNA profiling in twins?
To determine if they are
monozygotic
or
fraternal
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Why might adopted individuals use DNA profiling?
To determine their
blood relatives
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What is one use of DNA profiling in forensic science?
To match DNA from
crime scenes
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