A New Variant of the aSubunit of Spectrin in Hereditary Elliptocytosis
In: Blood, Jg. 69 (1987-02-01), Heft 2, S. 473-478
Online
serialPeriodical
Zugriff:
A kindred is described in which two brothers with a poikilocytic variant of hereditary elliptocytosis (HE) were found to have a defect of spectrin dimer association and a decreased spectrin-band 3 ratio. Two-dimensional gel electrophoresis of limited tryptic digests of their spectrin revealed decreased amounts of the al domain when compared with control digests and the appearance of two major peptides with mol wts of 43,000 and 42,000 and isoelectric points (5.75 to 5.85) more basic than the al domain. Tryptic digests of spectrin from the asymptomatic mother of the two brothers were normal. Immunoblots of the two-dimensional gels using an antiserum to the αl domain revealed that the 43,000- and 42,000-dalton pep-tides were derived from the al domain, along with a series of lower mol wt peptides, some of which were below the detection limits of Coomassie blue-stained gels. Limit chy-motryptic maps of 126l-labeled tryptic peptides confirmed that the 43,000- and 42,000-dalton peptides were derived from the al domain. This kindred represents a new structural variant of spectrin in HE in that the major abnormal tryptic peptides derived from the al domain have lower mol wts and more basic isoelectric points than hitherto described.
Titel: |
A New Variant of the aSubunit of Spectrin in Hereditary Elliptocytosis
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Autor/in / Beteiligte Person: | Lambert, By S. ; Zail, S. |
Link: | |
Zeitschrift: | Blood, Jg. 69 (1987-02-01), Heft 2, S. 473-478 |
Veröffentlichung: | 1987 |
Medientyp: | serialPeriodical |
ISSN: | 0006-4971 (print) ; 1528-0020 (print) |
DOI: | 10.1182/blood.V69.2.473.473 |
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