[Home ] [Archive]   [ فارسی ]  
:: Main :: About :: Current Issue :: Archive :: Search :: Submit :: Contact ::
:: Volume 7, Issue 5 (11-2013) ::
Qom Univ Med Sci J 2013, 7(5): 28-34 Back to browse issues page
A Study of Intron 22 Inversion Type I and II of Coagulation Factor 8 Gene in Patients with Severe Hemophilia A Using IS-PCR Technique
Narges Rouzafzay 1, Leila Kokabi 1, Sirous Zeinali 1, Morteza Karimipour * 2
1- Pasteur Institute of Iran, Biotechnology Research Center
2- Pasteur Institute of Iran, Biotechnology Research Center , mortezakarimi@yahoo.com
Abstract:   (1365 Views)

Background and Objectives: Hemophilia A (HA) is an X-linked recessive bleeding disorder. The disease is caused by mutations in the F8 gene. Inversion of intron 22 is the most common causative mutation of severe hemophilia A, which is detectable by southern blot and polymerase chain reaction (PCR) methods. The aim of this study was to determine intron 22 inversion type I and type II inversion in severe hemophilia A patients by inverse shifting-PCR method.

Methods: This study was performed on 30 patients with severe hemophilia A with less than 1% of normal level activity of Factor 8. After obtaining consent from the patients, genomic DNA was extracted from peripheral blood leukocytes. The extracted DNAs were used as template for IS-PCR amplification after circularization (digestion by BclI and then ligation of the produced fragments by ligase enzyme).

Results: In 30 severe hemophilia A patients, 40% of the patients had intron 22 inversion type I, and 6.6% of the patients had intron 22 inversion type II.

Conclusion: The results of this study revealed that recombination between intron 22h-1 within the F8 gene and its copies (22h-2 and 22h-3), which lie in opposite direction to intron 22h-1, respectively cause the inversions of intron 22 type II and type I. Inversion of intron 22 type I is more frequent than type II. Also, by application of IS-PCR as a cost effective method, we could save time and improve the molecular detection of inversion. This method and can be used for detection of carriers and patients and for prenatal diagnosis of hemophilia A disease.

Keywords: Hemophilia A, Chromosome Inversion, PCR
Full-Text [PDF 407 kb]   (466 Downloads)    
Type of Study: Original Article |
Received: 2016/04/11 | Accepted: 2016/04/11 | Published: 2016/04/11
Send email to the article author

Add your comments about this article
Your username or Email:

CAPTCHA code


XML   Persian Abstract   Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Rouzafzay N, Kokabi L, Zeinali S, Karimipour M. A Study of Intron 22 Inversion Type I and II of Coagulation Factor 8 Gene in Patients with Severe Hemophilia A Using IS-PCR Technique. Qom Univ Med Sci J . 2013; 7 (5) :28-34
URL: http://journal.muq.ac.ir/article-1-707-en.html


Volume 7, Issue 5 (11-2013) Back to browse issues page
مجله دانشگاه علوم پزشکی قم Qom University of Medical Sciences Journal
Persian site map - English site map - Created in 0.2 seconds with 30 queries by YEKTAWEB 3781