Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
J Clin Invest
; 81(3): 945-50, 1988 Mar.
Article
en En
| MEDLINE
| ID: mdl-3343350
ABSTRACT
Complete adenine phosphoribosyltransferase (APRT) deficiency causes 2,8-dihydroxyadenine urolithiasis. In previous reports, analysis of the kinetic properties of APRT from APRT-deficient Japanese subjects revealed strikingly similar abnormalities suggesting a distinct "Japanese-type" mutation. In this paper, we report studies of 11 APRT-deficient lymphoblast cell lines. Nucleotide sequence analysis of APRT genomic DNA from WR2, a Japanese-type homozygote, identified a T to C substitution in exon 5, giving rise to the substitution of threonine for methionine at position 136. RNase mapping analysis confirmed this mutation in WR2 and revealed that six other Japanese-type homozygotes carry the same mutation on at least one allele. The remaining Japanese subject, who does not express the Japanese-type phenotype, did not demonstrate this mutation. Southern blot analysis showed that all seven Japanese-type subjects were confined to one TaqI restriction fragment length polymorphism (RFLP) haplotype. These studies provide direct evidence for the nature of the mutation in the Japanese-type APRT deficiency.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Pentosiltransferasa
/
Adenina Fosforribosiltransferasa
/
Alelos
/
Mutación
Límite:
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
J Clin Invest
Año:
1988
Tipo del documento:
Article