Spectrin Cosenza: a novel β chain variant associated with Sp α I/74 hereditary elliptocytosis
نویسندگان
چکیده
منابع مشابه
Spectrin Rouen ( f 8220 - 218 ) , a Novel Shortened # ? - Chain Variant in a Kindred with Hereditary Elliptocytosis
Introduction The molecular defect responsible for the shortened fl-spectrin chain variant, spectrin Rouen, was identified by analysis of cDNA and genomic DNA of affected individuals after amplification by the polymerase chain reaction. Peripheral blood reticulocyte RNA was transcribed into cDNA and amplified using primers corresponding to the 3' end of &-spectrin cDNA. Agarose gel electrophores...
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Two molecular defects involving the spectrin heterodimer (SpD) contact site of the a chain (the al domain) were previously identified using limited tryptic digestion followed by two-dimensional isoelectric focusing I sodium dodecyl sulfate-polyacrylamide gel electrophoresis. Both are characterized by atypical peptide maps which reveal a marked decrease of the 80.000-dalton al domain and a forma...
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An abnormal alpha subunit of erythrocyte spectrin has been described in hereditary pyropoikilocytosis (HPP), a rare hemolytic anemia characterized by erythrocyte budding and fragmentation. In HPP spectrin, the N terminal domain of the alpha subunit (alpha I T80) shows increased susceptibility to tryptic digestion, resulting in cleavage to a 50,000-d peptide, presumably due to a change in primar...
متن کاملA new abnormal variant of spectrin in black patients with hereditary elliptocytosis.
Seven black patients with mild hereditary elliptocytosis (HE) from five unrelated families were studied. The erythrocytes of these patients exhibited an abnormal thermal sensitivity (between 45 degrees C and 47 degrees C instead of 49 degrees C). An important defect of spectrin dimer self-association was detected in two ways: (1) the proportions of spectrin dimer (SpD) extracted from membranes ...
متن کاملSpectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis.
Most of hereditary elliptocytosis (HE) cases are related to a spectrin dimer (SpD) self-association defect. The severity of haemolysis is correlated with the extent of the SpD self-association defect, which itself depends on the location of the mutation regarding the tetramerization site. This site is presumed to involve the first C helix of the alpha chain and the last two helices, A and B, of...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 1997
ISSN: 0007-1048,1365-2141
DOI: 10.1046/j.1365-2141.1997.572703.x