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6 February, 15:31

Infantile Tay-Sachs is a fatal disease caused by a recessive allele passed from parents to offspring. Jennifer had a baby brother who died of Infantile Tay-Sachs disease (TSD), but Jennifer did not have the disease. When she grew up and got married, her third child also died of Infantile TSD. How is this possible?

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  1. 6 February, 18:46
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    The father of Jennifers child was also carrying the recessive allele for TSD, if we label the dominant A and the recessive (disease allele) it becomes clear. Jennifer will be a heterozygous Aa, carrying the allele for the disease but as she is heterozygous the allele is not expressed. Likewise the father of her children is Aa. Thus there is a 25% chance of and offspring inheriting both recessive alleles from mother and father and thus expressing the disease. This is a prime example of how recessive traits can go many generations before expressing themselves.
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