title: Identification of factor IX mutations in Iranian haemophilia B patients by SSCP and sequencing.
abstract: Different kinds of mutations, mostly point mutations, in the coagulation factor IX (FIX) gene F9 result in a recessive X-linked bleeding disorder known as haemophilia B. In this study, molecular analysis of 76 unrelated Iranian haemophilia B patients was performed by PCR, single strand conformational polymorphism (SSCP) on important functional regions of the F9 gene followed by sequencing on samples with different migration pattern. Using this approach we found mutation in 52 out of 76 patients. Our data showed that the pathologic mechanisms are heterogeneous as recorded for patients in haemophilia B mutation database and seven of the mutations are previously undescribed.
authors.affiliation: Biotechnology Research Centre, Pasteur Institute of Iran, Tehran 13164, Iran. mortezakarimi@yahoo.com
authors.forename: Morteza
authors.initials: M
authors.lastname: Karimipoor
authors.forename: Sirous
authors.initials: S
authors.lastname: Zeinali
authors.forename: Nafiseh
authors.initials: N
authors.lastname: Nafissi
authors.forename: Edward G D
authors.initials: EG
authors.lastname: Tuddenham
authors.forename: Manijeh
authors.initials: M
authors.lastname: Lak
authors.forename: Reza
authors.initials: R
authors.lastname: Safaee
mesh_terms: D000595:Amino Acid Sequence; D005164:Factor IX / Q000235:genetics*; D005838:Genotype; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D007492:Iran; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D005164:Factor IX