Hageman trait (factor XII deficiency): a probably second genotype inherited as an autosomal dominant characteristic.
نویسندگان
چکیده
A family is described in which HageImmunologic studies suggested that man trait appeared to be inherited in the molecular defect was similar to an autosomal dominant manner in that of the autosomal recessive form contrast to previously reported families and consisted of deficiency of antiin which the disorder behaves as an gens related to Hageman factor. autosomel recessive characteristic. H AGEMAN TRAIT is a hereditary disorder of blood coagulation in which plasma is deficient in Hageman factor (Factor XII) as measured by functional assays for its procoagulant, inflammatory, and fibrinolysis-enhancing properties.’ Currently available evidence suggests that synthesis of Hageman factor is depressed in individuals with Hageman trait, because their plasma is deficient in antigens detectable by antiserum directed specifically against Hageman factor.5 In the cases thus far reported, Hageman trait appears to be inherited in an autosomal recessive manner. Thus, both sexes are affected with equal frequency; only about one-fourth of the siblings of probands have the disorder; instances of Hageman trait within a family are limited to siblings; and consanguinity between parents of affected individuals is relatively freciuent.#{176}’7Anomalously, Hageman trait was detected in three successive generations in one family, but this apparent exception to autosomal recessive inheritance appeared to be explained by a high frequency of consanguinity.8 We report here studies in a family in which Hageman trait seems to be inherited as an autosomal dominant characteristic.
منابع مشابه
Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme.
A cDNA for coagulation factor XII has been used to investigate the presence of gene lesions and restriction fragment length polymorphisms in two brothers with Hageman trait and their family. A TaqI polymorphic fragment has been found in the two propositi and in 11 members of the paternal lineage. This polymorphism, absent in the normal population, is correlated with the reduction of factor XII ...
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متن کاملIsolation and properties of an abnormal Hageman factor (Factor XII) molecule in a cross-reacting material-positive hageman trait plasma.
We have previously described two unrelated individuals with homozygous Hageman trait (Factor XII deficiency) whose plasmas contained nonfunctional material immunologically indistinguishable from normal Hageman factor (HF). Abnormal HF from the plasma of one these subjects has now been purified to homogeneity, as judged by sodium dodecyl sulfate-polyacrylamide gel electrophoresis, alkaline disc ...
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عنوان ژورنال:
- Blood
دوره 40 3 شماره
صفحات -
تاریخ انتشار 1972