Genetic Variation & Genetic Disease Flashcards

1
Q

Single nucleotide polymorphisms (SNPs) occur approximately every

A

Single nucleotide polymorphisms (SNPs) occur approximately every 1,000 base pairs

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2
Q

Pros of genetic variation

A

Genetic variation allows a population to survive to changing environmental conditions.
Advantageous traits can be passed on to next generation
disadvantageous traits are lost through generations, driving natural selection

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3
Q

Cons of genetic variation

A

New genetic mutations = can cause disease

Some mutations can be deleterious but same time offer protection to other diseases (e.g. sickle cell traits protect from malaria, CF carriers are protected from cholera)

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4
Q

Where are most genetic differences located in genome

A

SNPs (occur every 1,000 base pairs)

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5
Q

Alleles with ____ penetrance are very rare

A

Alleles with HIGH penetrance are very rare

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6
Q

Alleles with _____ penetrance are common

A

Alleles with LOW penetrance are common

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7
Q

List 3 ways we detect genetic variation

A

• PCR (Polymerase Chain reaction)
• sequencing
• NGS (Next Generation Sequencing)

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8
Q

What is a PCR used for

A

PCR is used to see what changes in DNA cause disease/ make individuals susceptible to a disease

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9
Q

Describe the process of PCR simply

A
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10
Q

Next Generation Sequencing (NGS) is better for genetic analysis than PCR, what are 3 things it can do

A

• WHOLE EXOME SEQUENCING (can sequence whole exomes= coding portions of genome)
• WHOLE GENOME SEQUENCING (sequence 100% of genome)
• WHOLE RNA sequencing (sequence expressed RNA)

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11
Q

Define exome

A

EXOME is a sequence of exons in a genome

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12
Q

Define exon

A

exons are protein coding portions of genome

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13
Q

Define intron

A

Introns are stretches of DNA between exons that are non-coding

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14
Q

What is known as the ‘gold standard’ of genetic testing

A

Sanger sequencing

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15
Q

What does ddNTP stand for

A

ddNTP= dideoxyribonucleic acids

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16
Q

What is meant by the term bioinformatic tool

A

Bioinformatics, as related to genetics and genomics, involves using computer technology to collect, store, analyze and disseminate biological data and information e.g. NGS DNA information

17
Q

Why do we use NGS

A

good for discovering new genes that cause disease especially rare inherited diseases

18
Q

Why is combining genetic diagnosis and targeted therapy beneficial to patient

A

If we can attain genetic info from placenta via genetic diagnosis—
It offers personalised approach to patient care, where treatment is tailored to specific genetic conditions of patient

19
Q

Describe what we know about gene therapy (+ example)

A
20
Q

Describe general chemotherapy

A
21
Q

Problems with general chemotherapy

A
22
Q

Role if topoisomerase

A

Topoisomerases help DNA unwind so that transcription can occur

23
Q

Give 3 examples of chemotherapeutic agents

A

Taxanes
Vinca alkaloids
Topoisomerase inhibitors

24
Q

Role of topoisomerase inhibitors in general chemotherapy

A

Topoisomerase inhibitors helps DNA stay wound up/ inhibits unwinding of DNA
Therefore stops transcription of cancer cells

25
Q

Explain why targeted therapy beneficial to cancer patients (e.g. trastuzumab + HER2 growth factor receptor)

A
26
Q

Role of pharmacogenomics in targeted therapy

A

Pharmacogenomics depends on who’s identifying specific mutations— allows us to identify genetic variation in specific metabolic pathways i.e. patients respond to drugs differently

We then can alter drugs to be metabolised more quickly (for patients who take long to absorb/metabolise)
We can give larger doses to patients who eliminate drug faster

27
Q

Ethical issues of genetic testing

A
28
Q

Why do we use Sanger sequencing

A

Sanger sequencing is a fast, cost effective way of reading the sequence of small targeted regions of the genome. It is widely used to test for known familial variants