A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency.
نویسندگان
چکیده
The Glu117stop mutation in the factor XI (FXI) gene is the most common cause of FXI deficiency and might cause the disease either by poor secretion/stability of the truncated protein or by decreased mRNA levels. Platelet- and lymphocyte-derived mRNA from three Glu117stop heterozygotes were analyzed by reverse-transcriptase polymerase chain reaction and sequencing, demonstrating allele-specific reduction of FXI Glu117stop mRNA.
منابع مشابه
HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Prevalence, causes, and characterization of factor XI inhibitors in patients with inherited factor XI deficiency
Factor XI deficiency, an injury-related bleeding disorder, is rare worldwide but common in Jews in whom 2 mutations, Glu117Stop (type II) and Phe283Leu (type III), prevail. Mean factor XI activities in homozygotes for Glu117Stop and for Phe283Leu are 1 and 10 U/dL, respectively. Inhibitors to factor XI in patients with severe factor XI deficiency have been reported in a small number of instance...
متن کاملPrevalence, causes, and characterization of factor XI inhibitors in patients with inherited factor XI deficiency.
Factor XI deficiency, an injury-related bleeding disorder, is rare worldwide but common in Jews in whom 2 mutations, Glu117Stop (type II) and Phe283Leu (type III), prevail. Mean factor XI activities in homozygotes for Glu117Stop and for Phe283Leu are 1 and 10 U/dL, respectively. Inhibitors to factor XI in patients with severe factor XI deficiency have been reported in a small number of instance...
متن کاملMolecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients.
BACKGROUND AND OBJECTIVES Factor XI (FXI) deficiency is a rare autosomal recessive coagulopathy which is, however, frequent among Ashkenazi Jews. Two mutations, type II (Glu117stop) and type III (Phe283Leu), account for the majority of abnormal alleles in this population. The aim of this study was to analyze the molecular basis of FXI deficiency in six unrelated Italian probands with severe def...
متن کاملThe two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin.
Previous studies showed that factor XI (FXI) deficiency commonly observed in Ashkenazi Jews is caused by two similarly frequent mutations, type II (Glu117stop) and type III (Phe283Leu) with allele frequencies of 0.0217 and 0.0254, respectively. In Iraqi Jews, who represent the ancient gene pool of Jews, only the type II mutation was observed with an allele frequency of 0.0167. In this study we ...
متن کاملDominant factor XI deficiency caused by mutations in the factor XI catalytic domain.
The bleeding diathesis associated with hereditary factor XI (fXI) deficiency is prevalent in Ashkenazi Jews, in whom the disorder appears to be an autosomal recessive condition. The homodimeric structure of fXI implies that the product of a single mutant allele could confer disease in a dominant manner through formation of heterodimers with wild-type polypeptide. We studied 2 unrelated patients...
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ورودعنوان ژورنال:
- Haematologica
دوره 90 12 شماره
صفحات -
تاریخ انتشار 2005