Isolation and radiation hybrid mapping of a dinucleotide repeat polymorphism at the human calcium-sensing receptor (CASR) locus.
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.
Tsukamoto
K
K
Department of Molecular Biology, Nippon Medical School, Kawasaki, Japan.
Watanabe
I
I
Shiba
T
T
Emi
M
M
D000483:Alleles; D001483:Base Sequence; D002118:Calcium / Q000502:physiology*; D002893:Chromosomes, Human, Pair 3; D018900:Dinucleotide Repeats / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D008969:Molecular Sequence Data; D010280:Parathyroid Glands / Q000737:chemistry; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface / Q000235:genetics*
D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface; D002118:Calcium