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by pathogens transmitted between organisms."},{"text":"It is passed on through pathogens, not through alleles.","correct":false,"explanation":"Pathogens cause infectious diseases, but inherited disorders result from alleles passed from parents. They are not transmitted by infection."},{"text":"It is caused by poor nutrition, not through infection.","correct":false,"explanation":"Poor nutrition can affect health but does not explain inherited disorders. These disorders are passed on through alleles rather than infectious agents."},{"text":"It is passed on through antibodies, not through infection.","correct":false,"explanation":"Antibodies help defend against infection; they do not transmit inherited disorders. The correct cause is alleles passed from parents to offspring."}]},{"id":"79c68961-bb34-4b99-b05f-4bb9fab0753f","cardType":"basic","points":1,"front":"How many copies of a recessive faulty allele are needed to cause a disorder?","back":"Two copies are needed.","mcqOptions":[{"text":"Two copies are needed.","correct":true,"explanation":"A recessive faulty allele is expressed only when an individual inherits two copies, one from each parent."},{"text":"Only one copy is needed.","correct":false,"explanation":"One copy is sufficient for a dominant faulty allele, not a recessive one. A recessive disorder requires two faulty copies."},{"text":"Three copies are needed.","correct":false,"explanation":"Humans normally inherit two copies of each autosomal gene, so three copies are not required. Two recessive faulty alleles cause the disorder."},{"text":"No faulty copies are needed.","correct":false,"explanation":"A recessive inherited disorder still requires faulty genetic alleles. It appears when both inherited copies are faulty, not when neither copy is faulty."}]},{"id":"bdd14924-7cb7-45ae-9c52-8ce12e863414","cardType":"basic","points":1,"front":"How many copies of a dominant faulty allele are needed to show a disorder?","back":"Only one copy is needed.","mcqOptions":[{"text":"Only one copy is needed.","correct":true,"explanation":"A dominant faulty allele is expressed when just one copy is present, so an affected parent can pass on the disorder allele directly."},{"text":"Two copies are needed.","correct":false,"explanation":"Requiring two copies describes a recessive allele. A dominant faulty allele can show the disorder when only one copy is inherited."},{"text":"Only one carrier copy is needed.","correct":false,"explanation":"Dominant alleles do not produce unaffected carriers in the usual GCSE model. One dominant faulty allele is expressed and causes the disorder."},{"text":"Four copies are needed.","correct":false,"explanation":"Individuals usually have two copies of an autosomal gene, and a dominant faulty allele needs only one copy to be expressed."}]},{"id":"a5d006d7-1e53-4661-8148-428e30158977","cardType":"basic","points":1,"front":"What does cystic fibrosis cause in the lungs and digestive system?","back":"Thick, sticky mucus.","mcqOptions":[{"text":"Thick, sticky mucus.","correct":true,"explanation":"Cystic fibrosis causes thick, sticky mucus, which can block airways in the lungs and obstruct ducts in the digestive system."},{"text":"Thin, watery mucus.","correct":false,"explanation":"Cystic fibrosis makes mucus unusually thick and sticky, not thin and watery. The abnormal mucus can block airways and digestive ducts."},{"text":"Excess red blood cells.","correct":false,"explanation":"Cystic fibrosis primarily affects mucus production rather than directly causing excess red blood cells. Its characteristic effect is thick, sticky mucus."},{"text":"Damaged bone tissue.","correct":false,"explanation":"Cystic fibrosis is not primarily a bone disorder. The faulty gene causes thick, sticky mucus in the lungs and digestive system."}]},{"id":"2bdccf1a-90f4-410f-a587-fe6f14b048c8","cardType":"basic","points":2,"front":"Why must a child inherit the cystic fibrosis allele from both parents to have the disorder?","back":"Cystic fibrosis is caused by a recessive allele, so two faulty copies are needed.","mcqOptions":[{"text":"Cystic fibrosis is caused by a recessive allele, so two faulty copies are needed.","correct":true,"explanation":"Cystic fibrosis is recessive, so a child must inherit a faulty allele from both parents to have two copies and develop the disorder."},{"text":"Cystic fibrosis is caused by a dominant allele, so one faulty copy is enough.","correct":false,"explanation":"The dominant and recessive patterns have been reversed here. Cystic fibrosis is caused by a recessive allele, requiring two faulty copies."},{"text":"Cystic fibrosis is caused by a recessive allele, so one faulty copy is enough.","correct":false,"explanation":"One recessive faulty allele makes someone a carrier but usually does not cause cystic fibrosis. Two faulty copies are needed for the disorder."},{"text":"Cystic fibrosis is caused by an infectious organism, so both parents must transmit it.","correct":false,"explanation":"Cystic fibrosis is inherited genetically, not caused by an infectious organism. The child needs two recessive faulty alleles, one from each parent."}]},{"id":"83461a1d-a1d1-488e-a877-3bb9d0df371e","cardType":"basic","points":2,"front":"Why does a carrier not have a recessive inherited disorder?","back":"A carrier has only one faulty recessive allele, so it is not expressed.","mcqOptions":[{"text":"A carrier has only one faulty recessive allele, so it is not expressed.","correct":true,"explanation":"A carrier has one faulty recessive allele and one working allele. The working allele masks the faulty one, so the recessive disorder is not expressed."},{"text":"A carrier has only one faulty dominant allele, so it is not expressed.","correct":false,"explanation":"A dominant faulty allele would normally be expressed with one copy. Carriers of recessive disorders have one faulty recessive allele instead."},{"text":"A carrier has two faulty recessive alleles, so neither is expressed.","correct":false,"explanation":"Two faulty recessive alleles usually cause the disorder rather than being hidden. An unaffected carrier has only one faulty recessive allele."},{"text":"A carrier has only one working allele, so it is not expressed.","correct":false,"explanation":"The key feature is one faulty recessive allele being masked by a working allele. Having one working allele alone does not explain carrier status."}]},{"id":"e1ffacc8-0c43-46b9-b25d-5662b9cd8f5f","cardType":"basic","points":1,"front":"What is polydactyly?","back":"Having extra fingers or toes.","mcqOptions":[{"text":"Having extra fingers or toes.","correct":true,"explanation":"Polydactyly is an inherited condition in which a person develops extra fingers or toes."},{"text":"Having webbed fingers or toes.","correct":false,"explanation":"Webbed fingers or toes describe syndactyly, not polydactyly. Polydactyly specifically means having extra digits."},{"text":"Having unusually long fingers or toes.","correct":false,"explanation":"Polydactyly concerns the number of digits, not their length. It means having extra fingers or toes."},{"text":"Having no fingers or toes.","correct":false,"explanation":"The absence of fingers or toes is not polydactyly. Polydactyly means an individual has additional fingers or toes."}]},{"id":"ed6c92ee-d4bf-443a-8aea-895c6a236223","cardType":"basic","points":2,"front":"Why can a child inherit polydactyly from just one affected parent?","back":"Polydactyly is caused by a dominant allele, so one copy is sufficient.","mcqOptions":[{"text":"Polydactyly is caused by a dominant allele, so one copy is sufficient.","correct":true,"explanation":"Because polydactyly is caused by a dominant allele, inheriting one faulty copy from either affected parent can produce the phenotype."},{"text":"Polydactyly is caused by a recessive allele, so one copy is sufficient.","correct":false,"explanation":"A recessive allele usually requires two copies to be expressed. Polydactyly is treated as dominant, so one copy can be sufficient."},{"text":"Polydactyly is caused by a dominant allele, so two copies are needed.","correct":false,"explanation":"The allele type is correct, but the copy requirement is not. A dominant allele can produce polydactyly when only one copy is present."},{"text":"Polydactyly is caused by an infectious allele, so one copy is sufficient.","correct":false,"explanation":"Alleles are genetic variants, not infectious agents. Polydactyly is caused by a dominant allele, with one copy sufficient to show the trait."}]},{"id":"06136390-7a64-4e38-b6c7-cfebe41fdf3f","cardType":"basic","points":2,"front":"How is a Punnett square used to calculate inherited-disorder risk?","back":"

Combine the parents’ gametes.
Count the resulting offspring genotypes.

","mcqOptions":[{"text":"

Combine the parents’ gametes.
Count the resulting offspring genotypes.

","correct":true,"explanation":"A Punnett square combines one gamete from each parent in every box, then the resulting genotypes are counted to calculate inheritance probabilities."},{"text":"

Combine the parents’ phenotypes.
Count the resulting offspring genotypes.

","correct":false,"explanation":"Punnett squares combine gametes, which carry alleles, rather than phenotypes. The resulting offspring genotypes are then counted to find risk."},{"text":"

Combine the parents’ gametes.
Count the resulting offspring phenotypes.

","correct":false,"explanation":"Gametes are correctly combined, but genotype probabilities must first be counted. Phenotypes can then be inferred from those genotypes where required."},{"text":"

Combine the parents’ genotypes.
Count the resulting parent phenotypes.

","correct":false,"explanation":"A Punnett square uses parental gametes and predicts offspring genotypes. It does not combine whole genotypes directly or count parental phenotypes."}]},{"id":"5fb1c1dd-cb29-48a9-b178-6c363304b522","cardType":"basic","points":1,"front":"What is the chance of an affected child from two cystic fibrosis carriers, $Ff \\times Ff$?","back":"One quarter, or 25%.","mcqOptions":[{"text":"One quarter, or 25%.","correct":true,"explanation":"For $Ff \\times Ff$, one of the four equally likely genotype combinations is $ff$, so the chance of an affected child is 25%."},{"text":"One half, or 50%.","correct":false,"explanation":"Half the offspring are expected to be carriers, but only one of four combinations is $ff$ and affected. The disorder risk is 25%."},{"text":"Three quarters, or 75%.","correct":false,"explanation":"Three quarters are expected to have at least one working allele and be unaffected. The affected $ff$ outcome is one quarter, or 25%."},{"text":"One eighth, or 12.5%.","correct":false,"explanation":"The Punnett square has four equally likely outcomes, not eight. One outcome is affected, giving a risk of one quarter, or 25%."}]},{"id":"d7926eed-75a4-464a-ac35-5f009140a116","cardType":"basic","points":1,"front":"What proportion of the offspring from $Ff \\times Ff$ are carriers?","back":"One half, or 50%.","mcqOptions":[{"text":"One half, or 50%.","correct":true,"explanation":"The cross $Ff \\times Ff$ gives $FF$, $Ff$, $Ff$, and $ff$. Two of four outcomes are $Ff$ carriers, equal to 50%."},{"text":"One quarter, or 25%.","correct":false,"explanation":"One quarter is the proportion affected with genotype $ff$. Two of the four outcomes are $Ff$ carriers, so the correct proportion is 50%."},{"text":"Three quarters, or 75%.","correct":false,"explanation":"Three quarters are unaffected, including both $FF$ and $Ff$ offspring. Only two of four outcomes are carriers, giving 50%."},{"text":"One third, or 33%.","correct":false,"explanation":"The four Punnett-square outcomes are equally likely, and two are carriers. This gives one half, or 50%, rather than one third."}]},{"id":"6fba8624-cae4-44bf-a0fc-1f8986af95b3","cardType":"basic","points":2,"front":"Why can an unaffected child of two cystic fibrosis carriers still pass on the disorder allele?","back":"The child may be an unaffected carrier with one faulty allele.","mcqOptions":[{"text":"The child may be an unaffected carrier with one faulty allele.","correct":true,"explanation":"An unaffected child may have genotype $Ff$: the working allele prevents the disorder, while the faulty recessive allele can still be passed to their children."},{"text":"The child may be an affected carrier with one faulty allele.","correct":false,"explanation":"A person with one faulty recessive allele is usually an unaffected carrier, not affected. Two faulty copies are needed for cystic fibrosis."},{"text":"The child may be an unaffected non-carrier with one faulty allele.","correct":false,"explanation":"Having one faulty allele means the child is a carrier by definition. An unaffected non-carrier has two working alleles."},{"text":"The child may be an unaffected carrier with two faulty alleles.","correct":false,"explanation":"Two faulty recessive alleles usually cause cystic fibrosis. An unaffected carrier has one faulty allele and one working allele."}]},{"id":"d8e2d7a9-83b0-40a5-a120-66ecda5b84cd","cardType":"basic","points":2,"front":"How are embryos tested during embryo screening?","back":"IVF embryos are tested for faulty alleles before one is placed in the womb.","mcqOptions":[{"text":"IVF embryos are tested for faulty alleles before one is placed in the womb.","correct":true,"explanation":"Embryo screening tests embryos created by IVF for particular faulty alleles before an embryo is selected and transferred to the womb."},{"text":"Fertilised eggs are tested for pathogens after one is placed in the womb.","correct":false,"explanation":"Screening examines IVF embryos for genetic alleles before implantation. It does not test for pathogens after transfer to the womb."},{"text":"IVF embryos are tested for faulty alleles after one is placed in the womb.","correct":false,"explanation":"The genetic test occurs before an embryo is placed in the womb, allowing selection beforehand. Testing after transfer would not describe embryo screening."},{"text":"Adult cells are tested for faulty alleles before an embryo is created.","correct":false,"explanation":"Embryo screening tests IVF embryos themselves. Testing adult cells can provide genetic information but is not the embryo-screening procedure described."}]},{"id":"6304a27c-4e70-4172-a088-dc8ceb5446b8","cardType":"basic","points":1,"front":"Give one argument for embryo screening.","back":"It may prevent children being born with serious genetic disorders.","mcqOptions":[{"text":"It may prevent children being born with serious genetic disorders.","correct":true,"explanation":"Screening can identify embryos carrying particular serious genetic disorders, allowing an embryo without the faulty allele to be selected for transfer."},{"text":"It guarantees children will have no health problems.","correct":false,"explanation":"Screening only tests for selected genetic conditions and cannot prevent every illness or health problem. It may reduce the risk of serious disorders."},{"text":"It makes all embryos have identical alleles.","correct":false,"explanation":"Screening identifies particular faulty alleles but does not make embryos genetically identical. Its potential benefit is avoiding selected serious disorders."},{"text":"It prevents parents passing on infectious diseases.","correct":false,"explanation":"Embryo screening targets inherited genetic disorders, not infections transmitted by pathogens. It may prevent selected genetic conditions in offspring."}]},{"id":"6f579127-d478-402f-82bb-3514dd9514b0","cardType":"basic","points":1,"front":"Give one argument against embryo screening.","back":"It is expensive.","mcqOptions":[{"text":"It is expensive.","correct":true,"explanation":"Embryo screening involves IVF and specialised genetic testing, making it expensive and potentially inaccessible to some families."},{"text":"It is free.","correct":false,"explanation":"IVF and genetic testing require specialised equipment and treatment, so cost is an argument against embryo screening rather than a benefit."},{"text":"It is instantaneous.","correct":false,"explanation":"Embryo screening requires IVF, embryo development, and genetic analysis, so it is not instantaneous. Its cost is a recognised disadvantage."},{"text":"It is infectious.","correct":false,"explanation":"Embryo screening is a medical testing procedure, not an infectious process. A valid argument against it is that the procedure is expensive."}]},{"id":"bd702029-f64f-427a-9025-a7f501aa21f9","cardType":"cloze","points":null,"front":"An allele expressed in the phenotype only when two copies are present is a [ ].","back":"An allele expressed in the phenotype only when two copies are present is a recessive allele.","mcqOptions":[{"text":"recessive allele","correct":true,"explanation":"A recessive allele affects the phenotype only when two copies are present, because a dominant working allele masks it in a heterozygous individual."},{"text":"dominant allele","correct":false,"explanation":"A dominant allele is expressed when one copy is present. An allele requiring two copies to affect the phenotype is recessive."},{"text":"carrier allele","correct":false,"explanation":"Carrier describes an individual with one recessive faulty allele, not an allele type. The allele expressed only in two copies is recessive."},{"text":"mutated allele","correct":false,"explanation":"A mutated allele has a changed DNA sequence, but mutation alone does not specify whether two copies are required. The correct term is recessive allele."}]},{"id":"59427197-4e29-4ba2-b2df-49456d47c484","cardType":"cloze","points":null,"front":"An allele expressed when only one copy is present is a [ ].","back":"An allele expressed when only one copy is present is a dominant allele.","mcqOptions":[{"text":"dominant allele","correct":true,"explanation":"A dominant allele is expressed when a person has just one copy, so its characteristic appears in the phenotype even when the other allele is recessive."},{"text":"recessive allele","correct":false,"explanation":"A recessive allele is usually expressed only when two copies are present, because a dominant allele masks it in a heterozygous genotype. The correct term is dominant allele."},{"text":"mutated allele","correct":false,"explanation":"A mutation is a change in genetic material and may occur in either a dominant or recessive allele. Expression with one copy specifically identifies a dominant allele."},{"text":"carrier allele","correct":false,"explanation":"Carrier describes a person who has a recessive allele without expressing the associated condition, rather than an allele expressed with one copy. The correct term is dominant allele."}]},{"id":"a7e289c5-9eb8-4e51-86b8-5c09d3988958","cardType":"cloze","points":null,"front":"Gene therapy aims to insert a working copy of the faulty [ ] into affected cells.","back":"Gene therapy aims to insert a working copy of the faulty gene into affected cells.","mcqOptions":[{"text":"gene","correct":true,"explanation":"Gene therapy supplies a working copy of the gene containing the instructions for the correct protein, allowing affected cells to function more normally."},{"text":"chromosome","correct":false,"explanation":"A chromosome contains many genes, so replacing an entire chromosome is not the targeted treatment described. Gene therapy aims to insert a working copy of the faulty gene."},{"text":"allele","correct":false,"explanation":"An allele is a version of a gene, but the treatment is described as adding a functioning copy of the gene rather than inserting a whole chromosome or cell."},{"text":"protein","correct":false,"explanation":"Proteins are the products made from genetic instructions and are not the faulty inherited sequence being replaced. The working copy inserted by gene therapy is the gene."}]},{"id":"d85c82d3-7d2b-47dc-aa1c-be40c6089f88","cardType":"cloze","points":null,"front":"If gene therapy makes cells produce the correct protein, the disorder’s [ ] could be reduced.","back":"If gene therapy makes cells produce the correct protein, the disorder’s symptoms could be reduced.","mcqOptions":[{"text":"symptoms","correct":true,"explanation":"Producing the correct protein can improve the affected cells’ function, which may lessen the signs and effects experienced by the person with the disorder."},{"text":"inheritance","correct":false,"explanation":"Making the correct protein may improve the condition but does not remove the faulty allele from reproductive cells. The disorder’s symptoms, rather than its inheritance, could be reduced."},{"text":"mutation","correct":false,"explanation":"Gene therapy does not necessarily repair or eliminate the original mutation throughout the person’s body. Its immediate potential benefit is reducing symptoms by restoring protein production."},{"text":"chromosomes","correct":false,"explanation":"The treatment does not reduce the number or structure of chromosomes. Correct protein production can reduce the disorder’s symptoms, which are the effects experienced by the patient."}]},{"id":"a254d593-ae26-419d-9485-e2cdb6980498","cardType":"cloze","points":null,"front":"Gene therapy does not remove the faulty allele from a person’s [ ], so it can still be passed on.","back":"Gene therapy does not remove the faulty allele from a person’s eggs or sperm, so it can still be passed on.","mcqOptions":[{"text":"eggs or sperm","correct":true,"explanation":"Gene therapy usually changes targeted body cells, not the reproductive cells. The faulty allele can therefore remain in eggs or sperm and be inherited by future children."},{"text":"red blood cells","correct":false,"explanation":"Mature red blood cells do not contain a nucleus and cannot pass genetic alleles to offspring. Inheritance involves reproductive cells, specifically eggs or sperm."},{"text":"muscle cells","correct":false,"explanation":"Muscle cells are body cells, so changes there are not normally passed to children. The faulty allele can still be transmitted through reproductive cells, eggs or sperm."},{"text":"nerve cells","correct":false,"explanation":"Nerve cells are somatic cells and do not form the genetic contribution to a child. Gene therapy not reaching reproductive cells means eggs or sperm may still carry the faulty allele."}]}]}],"examCountdown":{"examDate":"2027-05-11","paperLabel":"Paper 1"},"heading":"6.1.7 Inherited disorders","title":"6.1.7 Inherited disorders Flashcards","topbar":{"backHref":"/gcse/biology/aqa/flashcards"},"topicSidebar":"$L36"}]}],"topicId":"0a34237b-6800-5d39-a2bf-8be6869e6cdd","walled":"$L37"}],"$L38","$L39"]