A new restriction fragment length polymorphism in the haptoglobin gene region.

Send to: Hum Genet. 1985;70(1):66-70. A new restriction fragment length polymorphism in the haptoglobin gene region. Oliviero S, DeMarchi M, Bensi G, Raugei G, Carbonara AO. Abstract Direct gene analysis of the haptoglobin gene region was carried out by Southern blotting using an Hp cDNA as probe. Two types of polymorphism were observed: one due to intragenic duplication, is characterized by a constant fragment length difference of 1700bp observed with several enzymes and by complete correspondence with the protein molecular weight polymorphism; the second type, due to point mutation, was represented by two additional restriction sites for Eco RI and Pst I, with a frequency comparable to that of other genes. These two mutations segregated together in families, suggesting that the recently described Hp related gene is closely linked to the Hp gene. Moreover, they were completely associated with each other. The evolutionary significance of this finding is discussed.