[Gene diagnosis of factor VIII gene inversion by LD-PCR for 60 patients with severe hemophilia A]

Y Liang; L Ji; L Wang; J Liu

[Gene diagnosis of factor VIII gene inversion by LD-PCR for 60 patients with severe hemophilia A]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001 Oct;18(5):395-7.

[Article in Chinese]

Authors

Y Liang¹, L Ji, L Wang, J Liu

Affiliation

¹ Basic Medical Research Center, Beijing, Chaoyang Hospital Affiliated to Capital Medical University, Beijing, 100020 P.R. China. [email protected]

PMID: 11592051

Abstract

Objective: To identify factor VIII(F VIII) gene inversion among 60 patients with severe hemophilia A (HA) in Tianjin region.

Methods: DNA was extracted from peripheral blood of HA patients; F VIII gene inversion was identified by long distance-polymerase chain reaction(LD-PCR) and 0.6% agarose gel electrophoresis. Those with only 11 kb band were diagnosed as the cases of F VIII gene inversion. Those with only 12 kb band were identified as wild type(non-inversion), and those with both 11 kb and 12 kb bands were recognized as inversion carriers.

Results: There were 21 patients with F VIII gene inversion, accounting for 35% of the 60 patients with severe HA.

Conclusion: LD-PCR can be used to detect the F VIII gene inversion directly; it is an effective method for the gene diagnosis of severe hemophilia A.

Publication types

English Abstract
Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Inversion*
Factor VIII / genetics*
Hemophilia A / genetics*
Humans
Polymerase Chain Reaction / methods*

Substances

Factor VIII