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Title: Polymorphism and genetic mapping of the human oxytocin receptor gene on chromosome 3

Abstract

Centrally administered oxytocin has been reported to facilitate affiliative and social behaviors, in functional harmony with its well-known peripheral effects on uterine contraction and milk ejection. The biological effects of oxytocin could be perturbed by mutations occurring in the sequence of the oxytocin receptor gene, and it would be of interest to establish the position of this gene on the human linkage map. Therefore we identified a polymorphism at the human oxytocin receptor gene. A portion of the 3{prime} untranslated region containing a 30 bp CA repeat was amplified by polymerase chain reaction (PCR), revealing a polymorphism with two alleles occurring with frequencies of 0.77 and 0.23 in a sample of Caucasian CEPH parents (n = 70). The CA repeat polymorphism we detected was used to map the human oxytocin receptor to chromosome 3p25-3p26, in a region which contains several important genes, including loci for Von Hippel-Lindau disease (VHL) and renal cell carcinoma. 53 refs., 2 figs., 1 tab.

Authors:
; ;  [1]
  1. National Institute of Health-National Institute of Alcohol Abuse and Alcoholism, Rockville, MD (United States) [and others
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
443839
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Medical Genetics; Journal Volume: 60; Journal Issue: 3; Other Information: PBD: 19 Jun 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 3; GENETIC MAPPING; M CODES; OXYTOCIN; RECEPTORS; GENE MUTATIONS; MUTATION FREQUENCY; GENE REGULATION; DNA SEQUENCING; POLYMERASE CHAIN REACTION; BEHAVIOR; MAN; BIOLOGICAL MARKERS; HEREDITARY DISEASES

Citation Formats

Michelini, S., Urbanek, M., and Goldman, D. Polymorphism and genetic mapping of the human oxytocin receptor gene on chromosome 3. United States: N. p., 1995. Web. doi:10.1002/ajmg.1320600303.
Michelini, S., Urbanek, M., & Goldman, D. Polymorphism and genetic mapping of the human oxytocin receptor gene on chromosome 3. United States. doi:10.1002/ajmg.1320600303.
Michelini, S., Urbanek, M., and Goldman, D. Mon . "Polymorphism and genetic mapping of the human oxytocin receptor gene on chromosome 3". United States. doi:10.1002/ajmg.1320600303.
@article{osti_443839,
title = {Polymorphism and genetic mapping of the human oxytocin receptor gene on chromosome 3},
author = {Michelini, S. and Urbanek, M. and Goldman, D.},
abstractNote = {Centrally administered oxytocin has been reported to facilitate affiliative and social behaviors, in functional harmony with its well-known peripheral effects on uterine contraction and milk ejection. The biological effects of oxytocin could be perturbed by mutations occurring in the sequence of the oxytocin receptor gene, and it would be of interest to establish the position of this gene on the human linkage map. Therefore we identified a polymorphism at the human oxytocin receptor gene. A portion of the 3{prime} untranslated region containing a 30 bp CA repeat was amplified by polymerase chain reaction (PCR), revealing a polymorphism with two alleles occurring with frequencies of 0.77 and 0.23 in a sample of Caucasian CEPH parents (n = 70). The CA repeat polymorphism we detected was used to map the human oxytocin receptor to chromosome 3p25-3p26, in a region which contains several important genes, including loci for Von Hippel-Lindau disease (VHL) and renal cell carcinoma. 53 refs., 2 figs., 1 tab.},
doi = {10.1002/ajmg.1320600303},
journal = {American Journal of Medical Genetics},
number = 3,
volume = 60,
place = {United States},
year = {Mon Jun 19 00:00:00 EDT 1995},
month = {Mon Jun 19 00:00:00 EDT 1995}
}