What is the purpose of genetic screening for identifying carriers?

To identify individuals who do not show symptoms of a genetic condition but carry the allele and can pass it to their offspring

Why might a person with no symptoms of cystic fibrosis still benefit from genetic screening?

They may be a carrier of the CF allele and could pass it to their children, especially if their partner is also a carrier

At what stage of reproduction does PGD testing occur?

Before implantation, on embryos created through IVF

What material is collected during amniocentesis and why is it useful for genetic testing?

Amniotic fluid containing fetal cells, which can be analysed for genetic conditions

Edexcel A-Level Biology A 9BN0

Lifestyle, Health and Risk

Topic overview Water and the carbohydrates Condensation, hydrolysis and glycosidic bonds Lipids, food tests and units The cardiac cycle and the structure of the heart Arteries, veins and capillaries Core practical: caffeine and the heart rate of Daphnia The blood clotting cascade Thrombus, embolus and their consequences Atherosclerosis and the risk factors for CVD Treatments for CVD, and cholesterol transport BMI, waist-to-hip ratio and energy balance Core practical 2: the vitamin C content of food and drink Correlation, causation and the design of health studies Risk perception, and handling quantitative data

Genes and Health

Topic overview Gas exchange surfaces and Fick's Law The fluid mosaic model of the cell membrane Osmosis, diffusion and active transport Surface area and volume calculations The structure of DNA and RNA Transcription Translation and the genetic code Amino acids and the levels of protein structure Globular and fibrous proteins: haemoglobin and collagen Alternative splicing and tissue-specific proteins Enzyme specificity, the active site and activation energy Rates of reaction, Vmax and Core Practical 4 Semi-conservative replication and Meselson-Stahl Types of mutation and the CFTR gene Alleles, genotype and monohybrid inheritance Pedigree diagrams and the inheritance of cystic fibrosis The effects of cystic fibrosis, and the chi-squared test Prenatal genetic testing: PGD, amniocentesis and CVS The ethics of genetic screening

Voice of the Genome

Topic overview Prokaryotic cells Eukaryotic organelles and their functions Identifying organelles in an electron micrograph Protein secretion, and levels of organisation Microscopy: the graticule, magnification and standard form The cell cycle and the stages of mitosis Core practical: the root tip squash Meiosis, linkage and sex linkage The structure of sperm and egg cells Fertilisation: the acrosome and cortical reactions Totipotency, pluripotency and sources of stem cells The ethics and risks of stem cell therapy Differential gene expression and specialisation The lac operon Epigenetics: DNA methylation and histone modification Polygenic inheritance, continuous variation and statistics

Biodiversity and Natural Resources

Topic overview Biodiversity, species richness and the index of diversity Niches and the three kinds of adaptation Natural selection and evolution The Hardy-Weinberg equation and its assumptions Reproductive isolation and speciation Classification The plant cell wall, chloroplast and amyloplast The vacuole, plasmodesmata, pits and middle lamella Plant cells in the electron microscope Starch and cellulose Lignin, xylem vessels and sclerenchyma fibres Identifying plant tissues under the microscope The structure of xylem, phloem and sclerenchyma Water and the mineral nutrition of plants Core practical: investigating mineral deficiency Core practical: the tensile strength of plant fibres Drug development from Withering to modern trials Growing bacteria and aseptic technique Core practical: the antimicrobial properties of plants Sustainability and Conservation

On the Wild Side

Immunity, Infection and Forensics

Topic overview Decomposition, succession and forensic entomology Body cooling and rigor mortis DNA profiling and the polymerase chain reaction Gel electrophoresis The structure of bacteria and viruses Decomposition, and how pathogens enter the body The body's barriers, and modelling bacterial growth Tuberculosis and HIV The non-specific immune response Antigens, antibodies and B cells T cells and cell-mediated immunity Active and passive immunity, natural and artificial The evolutionary race and pathogen evasion Antibiotics and testing their effectiveness Hospital acquired infections and their control

Run for Your Life

Topic overview Muscles and Movement The myofibril and the sarcomere The sliding filament theory, calcium and ATP Slow-twitch and fast-twitch muscle fibres Glycolysis and the link reaction The Krebs cycle, oxidative phosphorylation and oxygen debt The conduction system: SAN, AVN and Purkyne fibres The sequence of cardiac excitation The electrocardiogram, cardiac output and stroke volume The cardiovascular and ventilation control centres Spirometry and ventilation during exercise Homeostasis, feedback and gene control by hormones Thermoregulation and the hypothalamus The effects of too much and too little exercise Medical technology and performance-enhancing substances

Grey Matter

Topic overview The structure of neurones and myelination The action potential and saltatory conduction The structure of a synapse and calcium entry Neurotransmitter release and acetylcholine Rod cells and the detection of light Effectors, the neuromuscular junction and the pupil reflex Phytochrome and the response to light IAA, phototropism and gravitropism Nervous against hormonal coordination The regions of the brain and their functions Brain imaging: MRI, fMRI, PET and CT Critical periods and the Hubel and Wiesel experiments Nature, nurture, habituation and research ethics Dopamine, serotonin and their imbalance L-Dopa and MDMA Genome sequencing, personalised medicine and its ethics Genetically modified organisms: benefits and risks

Genes and Health

Prenatal genetic testing: PGD, amniocentesis and CVS

3 things to know
Papers 1, 2 and 3

Overview

Recall questions on what each test involves, when it can be carried out, and the risks attached.

What you need to know

Answer each one before you reveal it.

Your recallNot started

Process

Describe the procedure of amniocentesis.

Key term

What is chorionic villus sampling (CVS)?

Key term

What is pre-implantation genetic diagnosis (PGD)?

Questions from this subtopic

Each one with the model answer underneath.

1
What is the purpose of genetic screening for identifying carriers?
Model answer
To identify individuals who do not show symptoms of a genetic condition but carry the allele and can pass it to their offspring
2
Why might a person with no symptoms of cystic fibrosis still benefit from genetic screening?
Model answer
They may be a carrier of the CF allele and could pass it to their children, especially if their partner is also a carrier
3
What is pre-implantation genetic diagnosis (PGD)?
Model answer
A procedure where embryos created by IVF are tested for genetic conditions before being implanted into the uterus
4
At what stage of reproduction does PGD testing occur?
Model answer
Before implantation, on embryos created through IVF
5
Describe the procedure of amniocentesis.
Model answer
A needle is inserted through the abdominal wall to extract a sample of amniotic fluid containing fetal cells for genetic analysis
6
What material is collected during amniocentesis and why is it useful for genetic testing?
Model answer
Amniotic fluid containing fetal cells, which can be analysed for genetic conditions

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