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2 Apr 2018

Case Study 1: X-Linked Agammagloblinemia 1. Fig 1.5 shows Bill's family tree. It can be seen that only males are affected and that the females who carry the defect (Bill's mother and maternal grandmother) are normal. This inheritance pattern is characteristic of an X-linked recessive trait. We do not know whether Bill's aunts are carriers of the defect because neither of them has had an affective male child. Now that the BTK gene has been mapped, it is possible in principal to detect carriers by testing for the presence of a mutant BTK gene. But there is a much simpler test that was already available at the time of Bill's diagnosis, which is still used routinely. Can you suggest how we could have determined whether Bill's aunts were carriers?

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Jarrod Robel
Jarrod RobelLv2
3 Apr 2018

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