Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBH Ok ), to Chromosome 19q13

Calcium homeostasis by the kidneys and parathyroids is mediated by the calcium-sensing receptor (CaSR), which is located on 3q21-q24 and belongs to family C of the superfamily of G-protein coupled receptors that includes those for metabotropic glutamate, certain pheromones, and γ-amino butyric acid...

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Bibliographic Details
Published in:American journal of human genetics 1999, Vol.64 (1), p.189-195
Main Authors: Lloyd, Sarah E., Pannett, Anna A.J., Dixon, Peter H., Whyte, Michael P., Thakker, Rajesh V.
Format: Article
Language:English
Subjects:
Autosomal
Biological and medical sciences
Calcium - physiology
Calcium-sensing receptor
Calmodulin
Calmodulin - genetics
Chromosome Mapping
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 3
Female
Homeostasis
Humans
Hypercalcemia - genetics
Hypocalciuria
Introns
Lod Score
Male
Medical sciences
Metabolic diseases
Metals (hemochromatosis...)
Microsatellite Repeats
Other metabolic disorders
Pedigree
Receptors, Calcium-Sensing
Receptors, Cell Surface - genetics
Sequence Analysis, DNA
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Summary:Calcium homeostasis by the kidneys and parathyroids is mediated by the calcium-sensing receptor (CaSR), which is located on 3q21-q24 and belongs to family C of the superfamily of G-protein coupled receptors that includes those for metabotropic glutamate, certain pheromones, and γ-amino butyric acid (GABA-B). Inactivating CaSR mutations result in familial benign hypercalcemia (FBH), or familial hypocalciuric hypercalcemia (FHH), whereas activating mutations result in hypocalcemic hypercalciuria. However, not all FBH patients have CaSR mutations, which, together with the mapping of another FBH locus to 19p13.3, suggests that additional CaSRs or second messengers may be involved. These may be identified by positional cloning, and we therefore performed a genomewide search, using chromosome-specific sets of microsatellite polymorphisms, in an Oklahoma family with an FBH variant (FBH Ok ), for which linkage to 3q and 19p had been excluded. Linkage was established between FBH Ok and eight chromosome 19q13 loci, with the highest LOD score, 6.67 (recombination fraction .00), obtained with D19S606. Recombinants further mapped FBH Ok to a
ISSN:0002-9297
1537-6605
DOI:10.1086/302202