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LCA

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  • We can continue this pedigree with one of the offspring that has LCA and their partner that is unaffected
  • What is an autosomal recessive disorder?
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  • Autosomal means that the gene is located on a non-sex determining chromosome and recessive means that the individual needs to have two copies of the gene for the disorder to develop
  • Knowing all of this information we can draw a punnett square of the same couple with the recessive gene CPE20 in which the mutation that causes LCA occurs
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  • This punnett square shows a 25% chance of having a child without the mutation, 50% chance of a child who is a carrier and 25% of being clinically affected
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