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What is an inherited disorder?
A condition caused by a genetic variant passed from parent to offspring.
What is polydactyly?
An inherited condition in which a person has extra fingers or toes.
How is polydactyly commonly inherited in GCSE examples?
As a dominant allele.
How many copies of a dominant polydactyly allele are needed for the condition to be expressed?
One copy.
Can two parents without a dominant form of polydactyly have a child with that form?
Not through ordinary inheritance of that dominant allele, although new mutations can occur.
What is cystic fibrosis?
An inherited disorder affecting cell membranes and the movement of chloride ions, leading to thick mucus.
How is cystic fibrosis inherited?
As a recessive disorder.
How many recessive cystic fibrosis alleles must a person inherit to have the condition?
Two.
What is a carrier of cystic fibrosis?
A person with one recessive cystic fibrosis allele and one functioning allele.
Why do carriers of cystic fibrosis usually not show the condition?
Their functioning allele produces sufficient functional protein.
What happens to mucus in cystic fibrosis?
It becomes unusually thick and sticky.
How can cystic fibrosis affect the lungs?
Thick mucus can block airways and increase the risk of lung infections.
How can cystic fibrosis affect digestion?
Thick mucus may block pancreatic ducts, reducing digestive enzyme delivery.
What is the probability of a child having cystic fibrosis if both parents are carriers?
25% for each pregnancy.
What is the probability of a child being a carrier if both parents are carriers?
50% for each pregnancy.
What is the probability of a child inheriting neither cystic fibrosis allele if both parents are carriers?
25% for each pregnancy.
What is embryo screening?
Testing embryos for particular genetic conditions before implantation.
What is one benefit of embryo screening?
It may reduce the chance of passing on a serious inherited disorder.
What is one ethical concern about embryo screening?
It raises questions about embryo selection and the treatment of embryos not selected.
Why can inherited disorders be predicted using Punnett squares?
They show the possible allele combinations inherited from parents.