Question

Jane is a patient. her brother greg has neuronal ceroid lipofuscinosis, also known as batten disease. it is autosomal recessive, and its symptoms include vision loss, loss of coordination, dementia and seizures. jane is healthy as are her parents and grandparents. jane is thinking of having children. she wants to know what the probability is her child would be a carrier for batten disease (in other words, the probability that jane is a carrier and that her child will inherit the recessive allele). since batten disease is very rare, we will assume that the father of jane's child is not affected nor a carrier.

Answer 1

Jane should get genetic testing to find out if she is a carrier of the recessive allele. If she is not and the assumptions about the father hold true, then the probability of her child being a carrier or having the disease is zero.