MspI polymorphic site within the Factor IX gene
نویسندگان
چکیده
منابع مشابه
Expression of Recombinant Factor IX Using the Transient Gene Expression Technique
Background: Pilot and large-scale production of recombinant proteins requires the presence of stable clones capable of producing large quantities of recombinant proteins. Not only the process of selecting stable clones is time consuming, but also the continuous culturing of clones in large-scale production may cause loss of incoming plasmid and recombinant genes. Thus, considering the advanceme...
متن کاملMolecular Characterization of the Factor IX Gene in 28 Iranian Hemophilia B Patients
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)...
متن کاملThe factor IX phospholipid-binding site is required for calcium-dependent activation of factor IX by factor XIa.
To determine the functional role of the metal-dependent conformational changes in Factor IX, two populations of conformation-specific anti-Factor IX antibodies were prepared. Anti-Factor IX X Mg(II) antibodies bind to Factor IX in the presence of Mg(II) and other metal ions, but not in the absence of metal ions. Anti-Factor IX X Ca(II)-specific antibodies bind to Factor IX in the presence of Ca...
متن کاملIntragenic Factor IX restriction site polymorphism in hemophilia B variants.
This study includes 47 normal subjects and 25 hemophilia B patients without inhibitor(s), showing different factor IX coagulant activity and antigen levels. Genomic DNA, digested with various restriction endonucleases, was hybridized with two different factor IX probes, ie, the cDNA and the subgenomic probe for the intragenic TaqI polymorphic site. cDNA restriction patterns suggest absence of g...
متن کاملA 50 bp polymorphic insertion in the factor IX gene is readily detected by amplification and is in equilibrium with other polymorphic sites.
A factor IX polymorphism 5' to exon 2 was described as 1.70 versus 1.75 kb bands on Southern blots of Ddel digests (1). By primer directed polymerase chain reaction (PCR) amplification, the two alleles are readily apparent on agarose electrophoresis of undigested fragments (430 or 380 bp); in heterozygous women or amplified mixtures of two hemizygous male types, an additional fragment (~480 bp)...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 1987
ISSN: 0340-6717,1432-1203
DOI: 10.1007/bf00283620