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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 Skogen, B Articles by Newman, P. Search for Related Content PubMed PubMed Citation Articles by Skogen, B Articles by Newman, P. Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  A dinucleotide deletion in exon 4 of the PlA2 allelic form of glycoprotein IIIa: implications for the correlation of serologic versus genotypic analysis of human platelet alloantigens B Skogen, R Wang, JG McFarland and PJ Newman Department of Immunology and Transfusion Medicine, University Hospital of Tromso, Norway. Platelets from a patient with a suspected case of posttransfusion purpura were subjected to alloantigen phenotyping and found to express the PlA1, but not the PlA2, allelic form of human platelet membrane glycoprotein (GP) IIIa on the platelet surface. However, genotyping showed unambiguously that the patient carried the genes for both of these GPIIa alleles. Based on these results, we postulated that the PlA2 allele was silent, ie, that this patient was a carrier for Glanzmann thrombasthenia (GT). Quantitative analysis of GPIIb-IIIa surface expression showed only 20,000 GPIIb-IIIa receptors/platelet, approximately half of the value obtained with control platelets. Southern blot analysis showed no large deletions or insertions within the GPIIIa gene, and amplification of all 14 exons encoding GPIIIa resulted in the production of normal sized polymerase chain reaction (PCR) products in all cases. DNA-sequence analysis showed an AG dinucleotide deletion affecting codons 210 and 211 within exon 4 of the GPIIIa gene, leading to a change in reading frame and the creation of a stop codon 38 nucleotides down-stream. The predicted truncated protein consists of only the first 223 of the normal 762 amino acids, thus accounting for the failure to express the PlA2 allele on the platelet surface. While encountered only rarely, carriers of either GT or Bernard Soulier syndrome that are at the same time heterozygous for human platelet alloantigenic epitopes found on GPIb, GPIIb, or GPIIIa have the possibility to give discrepant results when comparing genotypic versus phenotypic analysis. In such situations, the combination of serologic and DNA-based evaluation contributes complementary and beneficial diagnostic information than either one alone are able to provide. Volume 88, Issue 10, pp. 3831-3836, 11/15/1996 Copyright © 1996 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: N. A. Watkins, E. Schaffner-Reckinger, D. L. Allen, G. J. Howkins, N. H. C. Brons, G. A. Smith, P. Metcalfe, M. F. Murphy, N. Kieffer, and W. H. Ouwehand HPA-1a phenotype-genotype discrepancy reveals a naturally occurring Arg93Gln substitution in the platelet beta 3 integrin that disrupts the HPA-1a epitope Blood, March 1, 2002; 99(5): 1833 - 1839. [Abstract] [Full Text] [PDF] D Inwald, E G Davies, and N Klein Demystified ...: Adhesion molecule deficiencies Mol. Pathol., February 1, 2001; 54(1): 1 - 7. [Abstract] [Full Text] C. M. Ward, A. S. Kestin, and P. J. Newman A Leu262Pro mutation in the integrin beta 3 subunit results in an alpha IIb-beta 3 complex that binds fibrin but not fibrinogen Blood, July 1, 2000; 96(1): 161 - 169. [Abstract] [Full Text] [PDF]

	Copyright © 1996 by American Society of Hematology         Online ISSN: 1528-0020