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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.

Original publication




Journal article


J Clin Invest

Publication Date





2351 - 2357


Adolescent, Aged, Animals, Base Sequence, Child, Child, Preschool, Chromosome Aberrations, Chromosome Mapping, DNA, Satellite, Female, Genes, Recessive, Genetic Linkage, Genetic Markers, Humans, Hybrid Cells, Kidney Calculi, Male, Molecular Sequence Data, New York, Nucleic Acid Hybridization, Pedigree, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Rodentia, Sex Characteristics, X Chromosome