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Genetic Analysis of Coagulation Factor IX (FIX) Gene in Sample of Iraqi Patients With Hemophilia B.

Author: Ismail H. Aziz1 , Ali H. AL-Musawi2
Journal: Iraqi Journal of Biotechnology المجلة العراقية للتقانات الحياتية ISSN: 18154794 Year: 2017 Volume: 16 Issue: 4 Pages: 47-54
Publisher: Baghdad University جامعة بغداد

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Abstract

Hemophilia B (HB) is an X-linked recessive bleeding disorder caused by mutations in the coagulation factor IX (FIX) gene. Genotyping patients with HB is essential for genetic counseling and provides useful information for patient management. The aim of this study was to characterize the factor IX gene mutations in 20 unrelated Iraqi males hemophilia B patients from Thi-qar provence. This study was carried out in the Institute of Genetic Engineering and Biotechnology –University of Baghdad, during the period from April, 2016 to April, 2017.Their ages ranged from 4 -30 years .Polymerase chain reaction (PCR) and direct sequencing was performed to detect the mutations in patients. Three functionally regions of the gene (exon 4,exon 5 and exon 7)were screened. Twenty four point mutations were identified, including two missense variant (g15340 del G , p.Aspartic acid convert to Methionine acid) and (.22639 del A, p. Asparagine convert to Threonine) , two mutations were silent (g. 22632 del A, g. 22635 del A), while the rest of mutations were intronic mutations. These results conclude that mutations related with of haemophilia B disease.

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