Document Detail

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.
MedLine Citation:
PMID:  8099916     Owner:  NLM     Status:  MEDLINE    
X-linked recessive nephrolithiasis is associated with kidney stones and renal tubular dysfunction in childhood progressing to renal failure in adulthood. The primary defect causing this renal tubular disorder is unknown and determining the chromosomal location of the mutant gene would represent an important step toward defining the biochemical basis. We have performed linkage studies in 102 members (10 affected males, 47 unaffected males, 15 obligate heterozygote females, and 30 unaffected females) from five generations of one family. As genetic markers we used 10 cloned human X chromosome fragments identifying restriction fragment length polymorphisms and seven pairs of oligonucleotide primers identifying microsatellite polymorphisms. Linkage with the locus DXS255 was established with a peak LOD score = 5.91 at 3.6% recombination, thereby localizing the X-linked recessive nephrolithiasis gene to the pericentromeric region of the short arm of the X chromosome (Xp11.22). Multilocus analysis indicated that the mutant gene was distal to DXS255 but proximal to the Duchenne muscular dystrophy locus on Xp. Thus, the gene that causes X-linked recessive nephrolithiasis maps to the pericentromeric region of the short arm of the X chromosome (Xp11.22), and further characterization of this gene will help to elucidate the factors controlling renal tubular function and mineral homeostasis.
S J Scheinman; M A Pook; C Wooding; J T Pang; P A Frymoyer; R V Thakker
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of clinical investigation     Volume:  91     ISSN:  0021-9738     ISO Abbreviation:  J. Clin. Invest.     Publication Date:  1993 Jun 
Date Detail:
Created Date:  1993-07-21     Completed Date:  1993-07-21     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  7802877     Medline TA:  J Clin Invest     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  2351-7     Citation Subset:  AIM; IM    
Medical Research Council Molecular Medicine Group, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom.
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MeSH Terms
Base Sequence
Child, Preschool
Chromosome Aberrations*
Chromosome Mapping
DNA, Satellite / genetics
Genes, Recessive / genetics
Genetic Markers
Hybrid Cells
Kidney Calculi / genetics*
Linkage (Genetics)
Molecular Sequence Data
New York
Nucleic Acid Hybridization
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Sex Characteristics
X Chromosome*
Reg. No./Substance:
0/DNA, Satellite; 0/Genetic Markers
Comment In:
J Clin Invest. 1993 Jun;91(6):2339   [PMID:  8514847 ]

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