Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele.

Abstract excerpt

A pregnant woman accepted amniocentesis on account of the previous birth of type 1 oculocutaneous albinism (OCA1). PCR revealed that the fetus had two mutations (862delTT, Arg 299His). The father had one missense mutation (Arg 299Ser) and the mother had the same mutations as the fetus. Two mutations of the fetus located at the same allele were suspected. Postpartal follow-up confirmed his carrier status. For...

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