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Ankyrin\u20101, which provides the primary linkage between the erythrocyte membrane skeleton and the plasma membrane, has numerous isoforms generated by alternative splicing, alternate polyadenylation, use of tissue\u2010specific promoters, and alternate NH<jats:sub>2<\/jats:sub> or COOH\u2010termini. Mutation detection in erythrocyte membrane protein genes, including ankyrin, has been a challenge, primarily due to the large size of these genes, and the apparent frequent occurrence of HS\u2010associated null alleles. Using denaturing high\u2010performance liquid chromatography (DHPLC), we screened the ankyrin gene of the proband of a large, three generation African\u2013American kindred with ankyrin\u2010deficient HS. DHPLC yielded an abnormal chromatogram for exon 1. Examination of the corresponding exon 1 sequence in genomic DNA from the proband revealed heterozygosity for a mutation of the initiator methionine (AT<jats:italic>G<\/jats:italic> to AT<jats:italic>A<\/jats:italic> Met 1 Ile). Coupled <jats:italic>in vitro<\/jats:italic>transcription\/translation studies with rabbit reticulocyte lysates demonstrated that the wild\u2010type ankyrin erythroid cDNA initiates only from the known initiator methionine, indicating that the use of alternate initiator methionine is not a mechanism of isoform diversity in erythroid cells. The mutant ankyrin allele, unlike some initiator methionine mutations that utilize downstream codons for translation initiation, was associated with a null allele. This is the first report describing ankyrin\u2010linked HS in an African\u2013American kindred. Am. J. Hematol., 2008. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.21254","type":"journal-article","created":{"date-parts":[[2008,7,18]],"date-time":"2008-07-18T21:00:35Z","timestamp":1216414835000},"page":"789-794","source":"Crossref","is-referenced-by-count":10,"title":["Ankyrin\u2010linked hereditary spherocytosis in an African\u2013American kindred"],"prefix":"10.1002","volume":"83","author":[{"given":"Jose","family":"Sangerman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yelena","family":"Maksimova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. 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