Mutation analysis of coagulation factor IX gene in Esfahanian hemophilia B patients by SSCP and sequencing
Journal Title: Khoon - Year 2007, Vol 3, Issue 4
Abstract
Mutation analysis of coagulation factor IX gene in Esfahanian hemophilia B patients by SSCP and sequencing Kamali Dolatabadi E.1,2(MS), Karimipoor M.1(PhD), Samiee Sh.2(MS), Kokabee L.1(MS), Zinali S.1(PhD), Nafissi N.1(BS), Hoorfar M.3(MD) 1Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran 2Iranian Blood Transfusion Organization-Research Center 3Seyed Shohada Hospital, Esfahan 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 SJIBTO 2007; 3(4): 299-308 Received: 16 Feb 2006 Accepted: 19 Sep 2006 Correspondence:Karimipoor M.PhD of Biologic Components. Biotechnology Research Center, Pasteur Institute of Iran, No.69, Pasteur Avenue, Tehran, Iran. Postal code: 13164.Tel: (+9821) 66480780; Fax: (+9821) 22806133. E-mail: Mortezakarimi@pasteur.ac.ir
Authors and Affiliations
E. Kamali Dolatabadi , M. Karimipoor , Sh. Samiee, L. Kokabee, S. Zinali, N. Nafissi
Keywords
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