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Prepublished online as a Blood First Edition Paper on November 7, 2002; DOI 10.1182/blood-2002-09-2693. This Article Full Text Full Text (PDF) Supplemental Figure All Versions of this Article: 2002-09-2693v1 101/6/2081    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 Yu, L.-C. Articles by Lin, M. Search for Related Content PubMed PubMed Citation Articles by Yu, L.-C. Articles by Lin, M. Related Collections Red Cells Transfusion Medicine Plenary Papers Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 15 March 2003, Vol. 101, No. 6, pp. 2081-2087 PLENARY PAPER The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts Lung-Chih Yu, Yuh-Ching Twu, Ming-Lun Chou, Marion E. Reid, Alan R. Gray, Joann M. Moulds, Ching-Yi Chang, and Marie Lin From the Transfusion Medicine Laboratory and the Immunohematology Reference Laboratory, Mackay Memorial Hospital, and the Institute of Biochemical Sciences, College of Science, National Taiwan University, Taipei, Taiwan; the Immunohematology Laboratory, New York Blood Center, New York, NY; the National Blood ServiceTooting, United Kingdom; and the Department of Microbiology and Immunology, Drexel University College of Medicine, Philadelphia, PA. The human i and I antigens are characterized as linear and branched repeats of N-acetyllactosamine, respectively. Conversion of the i to the I structure requires I-branching -1,6-N-acetylglucosaminyltransferase activity. It has been noted that the null phenotype of I, the adult i phenotype, is associated with congenital cataracts in Asians. Previously, the identification of molecular changes in the IGnT gene, associated with the adult i phenotype, has been reported. In the present study, we demonstrate that the human I locus expresses 3 IGnT forms, designated IGnTA, IGnTB, and IGnTC, which have different exon 1, but identical exons 2 and 3, coding regions. The molecular genetics proposed for the I locus offer a new perspective on the formation and expression of the I antigen in different cells and provide insight into the questions derived from investigation of the adult i phenotype. Molecular genetic analyses of the I loci of the 2 adult i groups, with and without congenital cataracts, were performed, and enzyme function assays and expression patterns for the 3 IGnT transcripts in reticulocytes and lens-epithelium cells were analyzed. The results suggest a molecular genetic mechanism that may explain the partial association of the adult i phenotype with congenital cataracts and indicate that a defect in the I locus may lead directly to the development of congenital cataracts. The results also suggest that the human blood group I gene should be reassigned to the IGnTC form, not the IGnTB form, as described previously. © 2003 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: Y.-Y. Fan, S.-Y. Yu, H. Ito, A. Kameyama, T. Sato, C.-H. Lin, L.-C. Yu, H. Narimatsu, and K.-H. 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