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Prepublished online as a Blood First Edition Paper on April 24, 2003; DOI 10.1182/blood-2003-02-0628. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-02-0628v1 102/5/1900    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 Balta, G. Articles by Altay, C. Search for Related Content PubMed PubMed Citation Articles by Balta, G. Articles by Altay, C. Related Collections Red Cells Signal Transduction Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 1 September 2003, Vol. 102, No. 5, pp. 1900-1903 RED CELLS Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency Gunay Balta, Fatma Gumruk, Nurten Akarsu, Aytemiz Gurgey, and Cigdem Altay From the Hacettepe University, Faculty of Medicine, Department of Pediatrics, Institute of Child Health and Section of Pediatric Hematology, Ankara, Turkey. Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Recently, the structure and location of the P5N-I gene have been published. This paper presents the results of a study characterizing the molecular pathologies of P5N-I deficiency in a total of 6 Turkish patients from 4 unrelated families of consanguineous marriages. Mutation analysis in the P5N-I gene led to the identification of 3 novel mutations in these patients. In 4 patients from 2 families, a homozygous insertion of double G at position 743 was detected in exon 9 (743-744insGG), leading to premature termination of translation 23 bp downstream. In one family, a homozygous T to G transition at position 543 (543T>G) in exon 8 resulted in the replacement of tyrosine (Tyr) with a stop codon (Tyr181Stop). In another family, a homozygous insertion of a single A in exon 7 (384-385insA) created a stop signal at the codon nearby. In all families, the parents were heterozygous for the relevant mutations. None of these changes was detected in 200 chromosomes from a healthy Turkish population. These mutations were not correlated with any particular phenotype. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: E. Bitto, C. A. Bingman, G. E. Wesenberg, J. G. McCoy, and G. N. Phillips Jr Structure of Pyrimidine 5'-Nucleotidase Type 1: INSIGHT INTO MECHANISM OF ACTION AND INHIBITION DURING LEAD POISONING J. Biol. Chem., July 21, 2006; 281(29): 20521 - 20529. [Abstract] [Full Text] [PDF] L. R. Chiarelli, P. Bianchi, E. Fermo, A. Galizzi, P. Iadarola, A. Mattevi, A. Zanella, and G. Valentini Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia Blood, April 15, 2005; 105(8): 3340 - 3345. [Abstract] [Full Text] [PDF]

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