Isolation and radiation hybrid mapping of a dinucleotide repeat polymorphism at the human calcium-sensing receptor (CASR) locus.
作者信息
Tsukamoto K, Watanabe I, Shiba T, Emi M
机构信息
Department of Molecular Biology, Nippon Medical School, Kawasaki, Japan.
出版信息
J Hum Genet. 1998;43(4):280-2. doi: 10.1007/s100380050091.
PMID:9852685
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.
摘要
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