Localization of familial benign hypercalcemia, Oklahoma variant (FBH (sub.Ok)), to chromosome 19q13
Article Abstract:
Familial benign hypercalcemia, Oklahoma variant (FBH(sub.Ok)), has been linked to eight chromosome-19q13 loci. This will be helpful to the identification process for another calcium-sensing receptor (CaSR) or a mediator of calcium homeostasis. A genomewide search was performed using chromosome-specific sets of microsatellite polymorphisms in an Oklahoma family with an FBH variant (FBH (sub.Ok)), for which linkage to 3q and 19p had been excluded. Inactivating CaSR mutations brings familial benign hypercalcemia (FBH) or familial hypocalciuric hypercalcemia (FHH). Activated mutations bring on hypocalcemic hypercalciuria. Additional CaSRs or second messengers are implicated. Calcium homeostasis regulated by the parathyroids and kidneys is mediated by the CaSR. It is located on 3q21-q24 and is part of the superfamily of G-protein coupled receptors.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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Age-dependent inclusion of sex chromosomes in lymphocyte micronuclei of man
Article Abstract:
Inclusion of sex chromosomes in lymphocyte micronuclei of men in an age-dependent way is discussed on the basis of studies using cultured lymphocytes from 10 men in two age groups, 21-19 and 51-55. For the first time it has been possible to assess micronucleation of the Y chromosome and the (active) X chromosome, both in the same cells, through use of an X-chromosome-specific DNA probe simultaneously detecting the Y chromosome.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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