Long distance-PCR for detection of factor VIII gene inversion in patients with severe hemophilia A.
- Author:
Pei-Fang DING
1
;
Wei-Sheng SUN
;
Qin-You WANG
;
De-Chun LIU
;
Xue-Qin ZHANG
;
Bin TENG
;
Fa-Kui SHEN
Author Information
1. School of Medicine, Shandong University, Jinan 250012, China. pfding2000@163.com
- Publication Type:Journal Article
- MeSH:
Adolescent;
Adult;
Antigens;
analysis;
Child;
Child, Preschool;
Chromosome Inversion;
Factor VIII;
genetics;
Hemophilia A;
blood;
genetics;
Humans;
Infant;
Male;
Polymerase Chain Reaction;
methods;
von Willebrand Factor;
immunology
- From:
Journal of Experimental Hematology
2003;11(4):390-392
- CountryChina
- Language:Chinese
-
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.
