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.
Article
ي Ko
| WPRIM
| ID: wpr-116334
المكتبة المسؤولة:
WPRO
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 AND METHODS: 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.
Key words
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Factor VIII
/
Introns
/
Polymerase Chain Reaction
/
Diagnosis
/
Hemophilia A
نوع الدراسة:
Diagnostic_studies
/
Prognostic_studies
المحددات:
Female
/
Humans
اللغة:
Ko
مجلة:
Korean Journal of Obstetrics and Gynecology
السنة:
2007
نوع:
Article