Long distance-PCR for detection of factor VIII gene inversion in patients with severe hemophilia A

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...

Full description

Saved in:
Bibliographic Details
Published inZhongguo shi yan xue ye xue za zhi Vol. 11; no. 4; p. 390
Main Authors Ding, Pei-Fang, Sun, Wei-Sheng, Wang, Qin-You, Liu, De-Chun, Zhang, Xue-Qin, Teng, Bin, Shen, Fa-Kui
Format Journal Article
LanguageChinese
Published China 01.08.2003
Subjects
Adolescent
Adult
Antigens - analysis
Child
Child, Preschool
Chromosome Inversion
Factor VIII - genetics
Hemophilia A - blood
Hemophilia A - genetics
Humans
Infant
Male
Polymerase Chain Reaction - methods
von Willebrand Factor - immunology
Online AccessGet more information

Cover

More Information
Summary: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.
ISSN:1009-2137