Ornithine aminotransferase (OAT): recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus.
Genomics
; 6(1): 123-8, 1990 Jan.
Article
en En
| MEDLINE
| ID: mdl-1968041
ABSTRACT
A human ornithine aminotransferase (OAT) locus has been mapped to the Xp11.2, as has the Norrie disease locus. We used a cDNA probe to investigate a 3-generation UCLA family with Norrie disease; a 4.2-kb RFLP was detected and a maximum lod score of 0.602 at zero recombination fraction was calculated. We used the same probe to study a second multigeneration family with Norrie disease from Utah. A different RFLP of 7.5 kb in size was identified and a recombinational event between the OAT locus represented by this RFLP and the disease loci was observed. Linkage analysis of these two loci in this family revealed a maximum load score of 1.88 at a recombination fraction of 0.10. Although both families have affected members with the same disease, the lod scores are reported separately because the 4.2- and 7.5-kb RFLPs may represent two different loci for the X-linked OAT.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Ornitina-Oxo-Ácido Transaminasa
/
Recombinación Genética
/
Cromosoma X
/
Desprendimiento de Retina
/
Transaminasas
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Genomics
Asunto de la revista:
GENETICA
Año:
1990
Tipo del documento:
Article