POLYMORPHISM AND GENETIC-MAPPING OF THE HUMAN OXYTOCIN RECEPTOR GENE ON CHROMOSOME-3

Centrally administered oxytocin has been reported to facilitate affili ative and social behaviours, in functional harmony with its well-known peripheral effects on uterine contraction and milk ejection, The biol ogical effects of oxytocin could be perturbed by mutations occurring i n the sequence of the oxytocin receptor gene, and it would be of inter est to establish the position of this gene on the human linkage map. T herefore we identified a polymorphism at the human oxytocin receptor g ene, A portion of the 3' untranslated region containing a 30 bp CA rep eat was amplified by polymerase chain reaction (PCR), revealing a poly morphism with two alleles occurring with frequencies of 0.77 and 0.23 in a sample of Caucasian CEPH parents (n = 70), The CA repeat polymorp hism we detected was used to map the the human oxytocin receptor to ch romosome 3p25-3p26, in a region which contains several important genes , including loci for Von Hippel-Lindau disease (VHL) and renal cell ca rcinoma. (C) 1995 Wiley-Liss, Inc.