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Isolation and radiation hybrid mapping of a dinucleotide repeat polymorphism at the human calcium-sensing receptor

K Tsukamoto¹, I Watanabe, T Shiba

¹Department of Molecular Biology, Nippon Medical School, Kawasaki, Japan.

Journal of Human Genetics

|December 16, 1998

Abstract:

Calcium-sensing receptor (CASR) in parathyroid gland regulates calcium homeostasis by sensing decreases in extracellular calcium levels and effecting an increase in secretion of parathyroid hormone. A polymorphic dinucleotide (CA) sequence was isolated from a genomic clone containing the human CASR gene and was mapped to 3q13.3-q21. This polymorphism will be useful in the genetic study of disorders affecting calcium metabolism, such as hypercalcemia, hypocalcemia, osteoporosis, hyperparathyroidism, and hypoparathyroidism.

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