Diagnosis of factor VIII gene inversion by PCR in Korean patients with hemophilia A and its application to carrier detection / 대한산부인과학회지
Korean Journal of Obstetrics and Gynecology
;
: 976-981, 2007.
Artigo
em Coreano
| WPRIM
| ID: wpr-116334
ABSTRACT
OBJECTIVE:
To establish PCR (polymerase chain reaction) method for detecting factor VIII gene inversion (intron 22) causing hemophilia A, and to apply it to carrier detection of hemophilia A.DESIGN:
A laboratory analysis MATERIALS ANDMETHODS:
An inversion pattern of the factor VIII gene was analyzed in 130 unrelated Korean patients with hemophilia A and 26 female subjects using PCR.RESULTS:
PCR analysis of the factor VIII gene for intron 22 inversion revealed that 91 patients (70%) were negative for the inversion, yielding 12 kb band by PQ primer. And all the other 39 (30%) patients who showed no amplification by PQ primer were positive for the inversion, yielding 11kb band by AQ primer. Among 113 patients with severe hemophilia A, 39 (35%) patients were positive for the inversion. Carrier detection for intron 22 inversion in 26 female subjects was performed, and revealed that 22 cases were carriers and 4 cases were normal female.CONCLUSION:
This result suggests that PCR analysis of the inversion within the factor VIII gene is useful in the carrier detection of hemophilia A as well as in identifying hemophilia A patients with intron 22 inversion, in the Korean population.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fator VIII
/
Íntrons
/
Reação em Cadeia da Polimerase
/
Diagnóstico
/
Hemofilia A
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Obstetrics and Gynecology
Ano de publicação:
2007
Tipo de documento:
Artigo
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