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This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Jarolim, P Articles by Palek, J Search for Related Content PubMed PubMed Citation Articles by Jarolim, P Articles by Palek, J Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Comparison of the ankyrin (AC)n microsatellites in genomic DNA and mRNA reveals absence of one ankyrin mRNA allele in 20% of patients with hereditary spherocytosis P Jarolim, HL Rubin, V Brabec and J Palek Department of Biomedical Research, St Elizabeth's Medical Center, Tufts University School of Medicine, Boston, MA 02135, USA. Combined deficiency of ankyrin and spectrin represents the most common biochemical abnormality in hereditary spherocytosis (HS). To examine whether a decrease in ankyrin mRNA represents a frequent cause of this type of HS, we took advantage of the reported (AC)n microsatellite polymorphism in the 3' untranslated region of ankyrin cDNA. We first measured the number of AC repeats in genomic DNA encoding erythrocyte ankyrin in 36 unrelated Czech HS patients with combined ankyrin and spectrin deficiency and found 21 of these subjects (58%) to be heterozygotes for the (AC)n microsatellite size. Further analysis of reticulocyte RNA showed that ankyrin cDNA from 7 of these 21 heterozygotes (33%) contained only one of the two ankyrin alleles. We conclude that approximately 1/3 of ankyrin-deficient autosomal dominant HS is caused by reduced expression of one ankyrin allele which, in turn, is caused by either a reduced transcription of one allele of the mutated ankyrin gene or abnormal processing or decreased stability of the mutant ankyrin mRNA. Because ankyrin deficiency is detected in approximately 60% of HS subjects, this result suggests that approximately 20% of all HS is caused by a decreased expression of one ankyrin mRNA allele. Volume 85, Issue 11, pp. 3278-3282, 06/01/1995 Copyright © 1995 by The American Society of Hematology CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: P. G. Gallagher, W. T. Tse, A. L. Scarpa, S. E. Lux, and B. G. Forget Structure and Organization of the Human Ankyrin-1 Gene. BASIS FOR COMPLEXITY OF PRE-mRNA PROCESSING J. Biol. Chem., August 1, 1997; 272(31): 19220 - 19228. [Abstract] [Full Text] [PDF]

	Copyright © 1995 by American Society of Hematology         Online ISSN: 1528-0020