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Blood, 15 October 2003, Vol. 102, No. 8, pp. 3035-3042. Prepublished online as a Blood First Edition Paper on June 26, 2003; DOI 10.1182/blood-2003-03-0955. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-03-0955v1 102/8/3035    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map 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 Seltsam, A. Articles by Blasczyk, R. Search for Related Content PubMed PubMed Citation Articles by Seltsam, A. Articles by Blasczyk, R. Related Collections Red Cells Transfusion Medicine Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  TRANSFUSION MEDICINE The nature of diversity and diversification at the ABO locus Axel Seltsam, Michael Hallensleben, Anke Kollmann, and Rainer Blasczyk From the Department of Transfusion Medicine, Hannover Medical School, Hannover, Germany. In this study we analyzed the complete genomic sequences, except intron 1, and 2 regulatory regions of 6 common (ABO*A101, ABO*A201, ABO*B101, ABO*O01, ABO*O02, and ABO*O03) and 18 rare ABO alleles, 3 of which were new. This was done by phylogenetic analysis and correlating sequence data with the ABO phenotypes. The study revealed multiple polymorphisms in noncoding regions. The intron-based phylogenetic analysis revealed 5 main lineages: ABO*A, ABO*B, ABO*O01, ABO*O02, and ABO*O03. The genomic sequences of most rare ABO alleles differed slightly from those of the common alleles. Singular mutations or hybrid alleles were most common, but a few exhibited mosaic sequence pattern containing multiple exon and/or intron motifs from other ABO lineages. Thus, both an accumulation of mutations as well as an assortment of the mutations by recombination seems to be responsible for the ABO gene diversity. The prevalence of replacement mutations indicates positive selection for allelic diversity. Phenotype-genotype correlation showed that sequence variations within the complete coding sequence can affect A- and B-antigen expression. All variant ABO*A/B alleles and one new ABO*O03-like allele were associated with weak ABO phenotypes. These findings are suggestive of the requirement of a comprehensive coding sequence database for sequence-based phenotype prediction. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: M. Persson, J. A. Letts, B. Hosseini-Maaf, S. N. Borisova, M. M. Palcic, S. V. Evans, and M. L. Olsson Structural Effects of Naturally Occurring Human Blood Group B Galactosyltransferase Mutations Adjacent to the DXD Motif J. Biol. Chem., March 30, 2007; 282(13): 9564 - 9570. [Abstract] [Full Text] [PDF] C. S. Carlson, D. J. Thomas, M. A. Eberle, J. E. Swanson, R. J. Livingston, M. J. Rieder, and D. A. Nickerson Genomic regions exhibiting positive selection identified from dense genotype data Genome Res., November 1, 2005; 15(11): 1553 - 1565. [Abstract] [Full Text] [PDF] Z.-H. Deng, Q. Yu, Y.-L. Lian, G.-G. Wu, Y.-Q. Su, and X. Zhang Identification of a Novel B Variant Allele at the ABO Locus in Chinese Han Individuals with B Subgroup Ann. Clin. Lab. Sci., January 1, 2005; 35(3): 265 - 269. [Abstract] [Full Text] [PDF]

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