molecular characterization of the factor ix gene in 28 iranian hemophilia b patients

نویسندگان

morteza karimipour

sirous zeinali

edward graham tuddenham

nafiseh nafissi

چکیده

background: heterogeneous mutations in the human coagulation factor ix gene lead to an x-linked recessive bleeding disorder known as hemophilia b. the disease is distributed worldwide with no ethnic or geographical priority. materials and methods: the aim of this study was to characterize the factor ix gene mutations in 28 unrelated iranian hemophilia b patients. polymerase chain reaction (pcr) and direct sequencing was performed for all functionally important regions of the gene. haplotype analysis was performed using three markers. results: we identified 24 point mutations and four small deletions (one novel mutation). overall, 20 different mutations were found and patients with common mutations had identical haplotype. conclusion: these data confirm high molecular heterogeneity of the mutations causing hemophilia b and will enable carrier testing and prenatal diagnosis for family members.

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Molecular Characterization of the Factor IX Gene in 28 Iranian Hemophilia B Patients

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عنوان ژورنال:
iranian journal of blood and cancer

جلد ۱، شماره ۲، صفحات ۴۳-۴۷

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