Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.
J Clin Invest
; 91(6): 2351-7, 1993 Jun.
Article
en En
| MEDLINE
| ID: mdl-8099916
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosoma X
/
Cálculos Renales
/
Aberraciones Cromosómicas
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Aged
/
Animals
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Región como asunto:
America do norte
Idioma:
En
Revista:
J Clin Invest
Año:
1993
Tipo del documento:
Article
País de afiliación:
Reino Unido