MUTATION DETECTION IN PROMOTER REGION OF COAGULATION FACTOR IX IN HEMOPHILIA B

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ALAH BAKHSHIAN M.; MOHAMMADIAN MOHAMMAD HOSSEIN; RASTGAR LARI GH.; KAZEMI A.; ALA F.; RAVANBOD SH.; ALAH BAKHSHIAN A.

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Journal: The Scientific Journal of Iranian Blood Transfusion Year:2008 | Volume:5 | Issue:2 (19) Page(s): 73-80

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Title

MUTATION DETECTION IN PROMOTER REGION OF COAGULATION FACTOR IX IN HEMOPHILIA B

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Keywords

HEMOPHILIA B LEYDENQ4

FACTOR IXQ4

PROMOTER REGIONQ4

Abstract

Background and Objectives: HEMOPHILIA B LEYDEN is an X chromosome-linked bleeding disorder characterized by an altered developmental expression of blood coagulation FACTOR IX. This form of hemophilia has been found to be associated with a variety of single point mutations encompassing a 40-nucleotide region in FACTOR IX PROMOTER REGION. Mutations in FACTOR IX gene promoter though relatively rare (about 2% of total) are important because they can give rise to the unique HEMOPHILIA B LEYDEN phenotype.Materials and Methods: Our objective was to study mutations in exon-1 in 43 Iranian hemophilia B patients to recognize possible cases of HEMOPHILIA B LEYDEN. Exon-1 of FACTOR IX gene was amplified by PCR; then, conformational sensitive gel electrophoresis (CSGE) was used to distinguish cases having mutations in this region.Results: Two cases showed band shifts on CSGE. Exon-1 of the patients was directly sequenced. We found two different mutations in exon-1: the A/T mutation at +6 and the A/G mutation at +13.Conclusions: The prevalence of HEMOPHILIA B LEYDEN in B hemophilia patients (4.6%) in our results shows a higher frequency rate in Iran compared to that of other reported countries.

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APA: Copy

ALAH BAKHSHIAN, M., MOHAMMADIAN, MOHAMMAD HOSSEIN, RASTGAR LARI, GH., KAZEMI, A., ALA, F., RAVANBOD, SH., & ALAH BAKHSHIAN, A.. (2008). MUTATION DETECTION IN PROMOTER REGION OF COAGULATION FACTOR IX IN HEMOPHILIA B. THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON), 5(2 (19)), 73-80. SID. https://sid.ir/paper/78543/en

Vancouver: Copy

ALAH BAKHSHIAN M., MOHAMMADIAN MOHAMMAD HOSSEIN, RASTGAR LARI GH., KAZEMI A., ALA F., RAVANBOD SH., ALAH BAKHSHIAN A.. MUTATION DETECTION IN PROMOTER REGION OF COAGULATION FACTOR IX IN HEMOPHILIA B. THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON)[Internet]. 2008;5(2 (19)):73-80. Available from: https://sid.ir/paper/78543/en

IEEE: Copy

M. ALAH BAKHSHIAN, MOHAMMAD HOSSEIN MOHAMMADIAN, GH. RASTGAR LARI, A. KAZEMI, F. ALA, SH. RAVANBOD, and A. ALAH BAKHSHIAN, “MUTATION DETECTION IN PROMOTER REGION OF COAGULATION FACTOR IX IN HEMOPHILIA B,” THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON), vol. 5, no. 2 (19), pp. 73–80, 2008, [Online]. Available: https://sid.ir/paper/78543/en

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