Factor VIII Gene Mutations in Korean Patients with Hemophilia A / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 1975-1981, 2004.
Artículo
en Coreano
| WPRIM
| ID: wpr-55328
ABSTRACT
OBJECTIVE:
To identify mutations within the factor VIII gene in Korean patients with severe hemophilia A.DESIGN:
A laboratory analysis.METHODS:
We systematically sequenced the promoter, all exons and splice junctions of factor VIII gene in 23 unrelated Korean patients with severe hemophilia A. Patients with factor VIII gene inversion were excluded.RESULTS:
Twelve patients (52.2%) showed a point mutation, among which 6 were nonsense mutations and the other 6 were missense mutations. A large deletion was found in 6 (26.1%) patients, a small deletion in 2 (8.7%), a small insertion in one patient. Two patients had compound mutations one patient had two missense mutations, and the other had a missense mutation and 4 bp insertion. Ten (43.5%) out of 23 mutations found are novel.CONCLUSION:
Mutations within the factor VIII gene found in Korean patients with moderate to severe hemophilia A are diverse as expected. And we have found 10 novel mutations. Our results can help understanding the molecular pathology of hemophilia A.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Factor VIII
/
Exones
/
Mutación Puntual
/
Codón sin Sentido
/
Mutación Missense
/
Patología Molecular
/
Hemofilia A
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Obstetrics and Gynecology
Año:
2004
Tipo del documento:
Artículo
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