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6.8 Inherited disorders and embryo screening

AQA: polydactyly (caused by a dominant allele) and cystic fibrosis (caused by a recessive allele), working out the chance of a child inheriting them, embryo screening, and the economic, social and ethical issues it raises.

AQA 2 min read

Two inherited disorders

Key terms

  • Inherited disorder: a condition caused by an allele passed on from parents.
  • Carrier: a person with one copy of a recessive allele for a disorder, who does not have the disorder.
  • Embryo screening: testing embryos for genetic disorders before they are implanted or born.
Polydactyly and cystic fibrosis
DisorderCaused byEffectWho has it
PolydactylyA dominant alleleExtra fingers or toesAnyone with at least one dominant allele (Dd or DD)
Cystic fibrosisA recessive alleleA disorder of cell membranes: thick, sticky mucus in the lungs and digestive systemOnly people with two recessive alleles (ff)

Working out the chances

A Punnett square of two cystic fibrosis carriers (Ff × Ff) showing a 1 in 4 chance of an affected child, and the steps of embryo screening during IVF
A Punnett square of two cystic fibrosis carriers (Ff × Ff) showing a 1 in 4 chance of an affected child, and the steps of embryo screening during IVF
  • Two carriers (Ff × Ff) have a 1 in 4 chance of a child with cystic fibrosis, and a 1 in 2 chance of a child who is a carrier.
  • A parent with polydactyly who is heterozygous (Dd) and an unaffected parent (dd) have a 1 in 2 chance of a child with polydactyly. Only one parent needs the allele, because it is dominant.

Embryo screening

Embryos made by IVF can be tested: one cell is removed and its DNA is checked for the faulty allele. Only embryos without the disorder are implanted. Scientists are also researching gene therapy, which could correct faulty alleles.

Is it right?

Issues with embryo screening
ForAgainst
Prevents suffering from a serious disorderEmbryos that are rejected are destroyed, which some people think is wrong
Lowers the cost of lifelong treatment and careIt is expensive, and may give false results
Parents can make informed choicesFears it could lead to "designer babies" chosen for other characteristics

Questions may ask you to evaluate these economic (cost), social (effects on families and society) and ethical (right and wrong) issues.

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5 exam questions · 13 marks · with mark schemes and model answers

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