[Home ] [Archive]   [ فارسی ]  
:: Main :: About us :: Current Issue :: Archive :: Search :: Submit :: Contact ::
Main Menu
Home::
Journal Information::
Articles archive::
For Authors::
For Reviewers::
Subscription::
News& Events::
Contact us::
Site Facilities::
::
Search in website

Advanced Search
..
Receive site information
Enter your Email in the following box to receive the site news and information.
..
Indexing
                        
..
:: Volume 3, Issue 4 (Winter 2007) ::
Sci J Iran Blood Transfus Organ 2007, 3(4): 299-308 Back to browse issues page
Mutation analysis of coagulation factor IX gene in Esfahanian hemophilia B patients by SSCP and sequencing
Esmat Kamali Dolatabadi , Morteza Karimipoor , Shahram Samiee , Leila Kokabee , Siroos Zinali , Nafiseh Nafissi , Hamid Reza Hoorfar
Abstract:   (25472 Views)

  Abstract

 Background and Objectives

 Hemophilia B is an inherited recessive X-linked bleeding disorder caused by deficiency or defect of procoagulant factor IX (FIX). The factor IX gene spans 35kb of DNA and comprises of 8 exons. Mutations in the factor IX gene may result in deficient or defective coagulation factor IX causing the bleeding tendency known as hemophilia B. The aim of this study was to identify the causative mutations and genotype-phenotype correlation for mutations in some known patients with hemophilia B in Isfahan province.

 

 Materials and Methods

 After informed consent was obtained, genomic DNAs of 24 hemophilia B patients referred to Omid hospital were extracted according to standard protocols. PCR amplification and single strand conformation polymorphism (SSCP) on nondenaturing polyacrylamid gel were performed separately on each sample for eight exons and exon-intron boundaries and promoter. The results of SSCP were compared to normal control and sequencing was performed for those with different migration patterns.

 

 Results

 The sequencing results showed 70.8% missense mutation, 16.7% deletion, 8.3% nonsense mutation, and 4.2% insertion. Many of the mutations had occurred in exon 8 it came out to be similar to haemophilia B mutation database. Malmo polymorphism (Ala 148 Thr) was found in one family. Four novel mutations not previously reported in the database were also found.

 

 Conclusions

 This study confirms the marked heterogeneity of factor IX mutations in the population. The results could be used to develop a national database and offer genetic counselling to families.

 

 Key words : Hemophilia B, SSCP, Mutation

 

Keywords: Hemophilia B, SSCP, Mutation
Full-Text [PDF 297 kb]   (3455 Downloads)    
Type of Study: Research | Subject: General
Published: 2014/08/18
Send email to the article author

Add your comments about this article
Your username or Email:

CAPTCHA


XML   Persian Abstract   Print


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

Kamali Dolatabadi E, Karimipoor M, Samiee S, Kokabee L, Zinali S, Nafissi N et al . Mutation analysis of coagulation factor IX gene in Esfahanian hemophilia B patients by SSCP and sequencing. Sci J Iran Blood Transfus Organ 2007; 3 (4) :299-308
URL: http://bloodjournal.ir/article-1-118-en.html


Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Volume 3, Issue 4 (Winter 2007) Back to browse issues page
فصلنامه پژوهشی خون Scientific Journal of Iran Blood Transfus Organ
The Scientific Journal of Iranian Blood Transfusion Organization - Copyright 2006 by IBTO
Persian site map - English site map - Created in 0.05 seconds with 39 queries by YEKTAWEB 4645