Long distance-PCR for detection of factor VIII gene inversion in patients with severe hemophilia A / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 390-392, 2003.
Article
在 Zh
| WPRIM
| ID: wpr-355639
Responsible library:
WPRO
ABSTRACT
The aim of current study was to detect intron 22 inversion of factor VIII gene in severe hemophilia A (HA) patients and screen the carriers of the gene inversion. Fifty-five cases of severe HA were involved and factor VIII gene inversion was detected and identified by long distance-PCR (LD-PCR) and 0.6% agarose gel electrophoresis. The 11 kb and 12 kb bands indicate the factor VIII gene inversion and non-inversion, respectively. Occurring of both 11 kb and 12 kb bands indicates a carrier of the inversion. The results showed that factor VIII gene inversion existed in 22 out of 55 cases, which accounted for about 40% of total detected patients. Five carriers of factor VIII gene inversion were diagnosed from the members in 15 families. In conclusion, LD-PCR assay is a simple, rapid and accurate method for detection of factor VIII gene inversion, and this approach is helpful in screening, carrier testing, and prenatal diagnosis of severe hemophilia A.
全文:
1
索引:
WPRIM
主要主题:
Blood
/
Factor VIII
/
Von Willebrand Factor
/
Polymerase Chain Reaction
/
Allergy and Immunology
/
Genetics
/
Hemophilia A
/
Chromosome Inversion
/
Methods
/
Antigens
研究类型:
Diagnostic_studies
/
Prognostic_studies
限制:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Male
语言:
Zh
期刊:
Journal of Experimental Hematology
年:
2003
类型:
Article