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Journal of Clinical Endocrinology & Metabolism, Vol 79, 1046-1048, Copyright © 1994 by Endocrine Society

ARTICLES

Chromosomal localization of the parathyroid hormone/parathyroid hormone- related protein receptor gene to human chromosome 3p21.1-p24.2

L Gelbert, E Schipani, H Juppner, AB Abou-Samra, GV Segre, S Naylor, H Drabkin and H Heath 3rd
Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84132.

The human PTH/PTH-related peptide (PTH/PTHrP) receptor could be involved in hereditary disorders of PTH or PTHrP action. Knowledge of the gene's chromosomal location would allow studies linking it to specific disease traits. Therefore, we mapped the human PTH/PTHrP receptor gene by polymerase chain reaction of human/rodent somatic cell hybrid panels using oligonucleotide primers designed to amplify a portion of the gene from genomic DNA. The PTH/PTHrP gene was unambiguously assigned to the short arm of human chromosome 3, in the region designated 3p21.1-p24.2. Analysis of a second chromosome 3- specific mapping panel suggests that the gene is located near the 3p21.2-p21.3 boundary. The availability of highly polymorphic markers located in this region will permit exploration of the PTH/PTHrP receptor locus in genetic linkage searches for the causes of bone, calcium, and other potential disorders.


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