Document Detail

Mapping a gene defect in absorptive hypercalciuria to chromosome 1q23.3-q24.
MedLine Citation:
PMID:  10566627     Owner:  NLM     Status:  MEDLINE    
Absorptive hypercalciuria (AH), a common cause of kidney stones, is due to intestinal hyperabsorption of calcium. The presence of a family history of nephrolithiasis, in about half of the affected individuals studied indicates that an inherited genetic defect is one likely cause of AH. Although it is known that intestinal calcium absorption is regulated by a number of factors, the molecular biological basis for the increased calcium absorption in AH is unknown. This study was designed to determine the chromosomal locus of the gene defect linked to the AH phenotype in three families with a severe form of AH. Three kindreds were evaluated in a systematic autosomal genome-wide linkage analysis study. The AH phenotype, characterized by hyperabsorption of calcium and hypercalciuria, was linked to only one chromosomal locus, 1q23.3-q24. A 2-point logarithm of odds score of 3.3 was obtained with markers D1S318 and D1S196 at a recombination frequency of theta = 0. Nonparametric multipoint linkage analysis yielded a peak nonparametric linkage Z(all)-score of 12.7, P = 6 x 10(-6) Analysis of key recombinants within the families studied localized the gene to a 4.3-megabase region between markers D1S2681 (centromere) and D1S2815. A trait associated with intestinal hyperabsorption of calcium in a severe form of absorptive hypercalciuria has been mapped to chromosome 1q23.3-q24.
B Y Reed; H J Heller; W L Gitomer; C Y Pak
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  84     ISSN:  0021-972X     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  1999 Nov 
Date Detail:
Created Date:  1999-11-26     Completed Date:  1999-11-26     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  3907-13     Citation Subset:  AIM; IM; S    
Center for Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center, Dallas 75235-8885, USA.
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MeSH Terms
Bone Density
Calcitriol / blood
Calcium / analysis,  blood,  urine*
Chromosome Mapping*
Chromosomes, Human, Pair 1*
Intestinal Absorption*
Kidney Calculi / chemistry,  genetics*
Linkage (Genetics)
Parathyroid Hormone / blood
Grant Support
Reg. No./Substance:
0/Parathyroid Hormone; 32222-06-3/Calcitriol; 7440-70-2/Calcium

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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