Genetic Technology Applied to Medicine (Cambridge (CIE) A Level Biology): Flashcards
Exam code: 9700
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Define recombinant human protein.
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Define recombinant human protein.
A human protein produced by genetically modified organisms (e.g. bacteria) that have had the human gene for that protein inserted.
State two advantages of using recombinant human insulin over animal insulin.
It is identical to human insulin, so it works effectively and is less likely to cause an immune response.
It can be produced in large quantities cheaply, and avoids ethical/religious objections to animal sources.
Which condition is treated with recombinant factor VIII, and why is the recombinant form safer?
Haemophilia.
Recombinant factor VIII avoids the risk of blood-borne infections (e.g. HIV, hepatitis) linked to factor VIII extracted from donated blood.
Which condition is treated with recombinant adenosine deaminase (ADA)?
Severe combined immunodeficiency (SCID) — caused by a lack of the enzyme ADA.
Give a general advantage of recombinant human proteins over proteins extracted from animals or donors.
They can be made in large, reliable amounts, are less likely to trigger immune rejection, and avoid contamination or disease transmission from animal/donor sources.
A human protein made by a genetically modified organism carrying the human gene is called a human protein.
A human protein made by a genetically modified organism carrying the human gene is called a recombinant human protein.
Define genetic screening.
Genetic screening is testing an individual's DNA for specific alleles associated with genetic disorders or disease risk.
What do the BRCA1 and BRCA2 genes indicate when screened?
Certain alleles indicate an increased risk of breast (and ovarian) cancer, allowing earlier monitoring or preventative action.
Why is genetic screening for Huntington's disease useful?
Huntington's is a late-onset disorder, so screening lets individuals know if they carry the allele and make informed decisions about their future and having children.
How does genetic screening help with cystic fibrosis?
It identifies carriers and affected individuals, informing reproductive choices and allowing early treatment and management.
State two general advantages of genetic screening.
Allows early diagnosis, monitoring or preventative treatment.
Informs reproductive decisions and can reduce anxiety through knowledge.
What is meant by a carrier identified through genetic screening?
A person who has one copy of a recessive disease allele, is unaffected themselves, but can pass it on to offspring.
Testing an individual's DNA for alleles linked to genetic disorders is called genetic .
Testing an individual's DNA for alleles linked to genetic disorders is called genetic screening.
Define gene therapy.
Gene therapy is the treatment of a genetic disorder by inserting a functioning (healthy) allele into a patient's cells to replace or supplement a faulty one.
How is gene therapy used to treat SCID?
A functional ADA gene is inserted into the patient's cells (often bone marrow / white blood cells) so they can produce the missing enzyme and restore immune function.
How is gene therapy used to treat inherited eye diseases?
A working copy of the faulty gene is delivered (e.g. by a viral vector) into retinal cells to restore normal function and improve or protect vision.
Distinguish somatic and germ-line gene therapy.
Somatic: a healthy allele is inserted into body cells; the change is not passed to offspring.
Germ-line: alleles are altered in gametes or embryos; the change is inherited (currently not permitted in humans).
How is the healthy allele usually delivered into a patient's cells?
Using a vector, commonly a modified (harmless) virus, which inserts the allele into the target cells.
Why is somatic gene therapy often a temporary treatment?
Treated body cells eventually die and are replaced by unmodified cells, so the treatment may need to be repeated.
Inserting a healthy allele into a patient's cells to treat a genetic disorder is called gene .
Inserting a healthy allele into a patient's cells to treat a genetic disorder is called gene therapy.
State two ethical concerns about genetic screening.
Results could be used to discriminate (e.g. by employers or insurers).
It raises issues of privacy/confidentiality and can cause anxiety or difficult reproductive decisions.
State one social benefit of genetic screening.
It allows early treatment or prevention and helps couples make informed reproductive choices, reducing the incidence of genetic disease.
State two ethical concerns about gene therapy.
Germ-line changes are inherited and could be used for non-medical enhancement ('designer babies').
Long-term safety is uncertain — the vector may disrupt other genes and cause cancer.
Why is germ-line gene therapy considered more ethically controversial than somatic gene therapy?
It alters gametes or embryos, so changes are passed to future generations who cannot consent, and could be misused for enhancement.
Give one argument in favour of using gene therapy despite the concerns.
It offers the possibility of curing or relieving serious, otherwise untreatable genetic diseases, improving quality of life.
True or False?
Genetic screening results could potentially be misused by insurance companies.
True.
Access to a person's genetic risk data raises concerns about discrimination in insurance or employment.
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