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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 Diaz-Chico, J. C. Articles by Kilinc, Y. Search for Related Content PubMed PubMed Citation Articles by Diaz-Chico, J. C. Articles by Kilinc, Y. Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes JC Diaz-Chico, KG Yang, TA Stoming, DG Efremov, A Kutlar, F Kutlar, M Aksoy, C Altay, A Gurgey and Y Kilinc Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-3331. Through the procedure of gene amplification combined with hybridization to synthetic 19 base pair (bp) oligonucleotide probes, it has been possible to identify nine different mutations in the DNA of 47 subjects from Turkey and Northern Cyprus with a beta-thalassemia homozygosity. The IVS-I nucleotide (nt) 110 G----A and the IVS-I nt 6 T----C substitutions and the frameshift at codon 8 were most frequently observed. Direct correlations were made between these data and clinical observations; mild disease was associated with homozygosity for IVS-I nt 6 T----C, for frameshift at codon 8, for the C----G substitution at nt -87, and for IVS-I nt 5 G----T, and for a double heterozygosity for some of these conditions. Moderate disease, observed in some of the patients, could be explained by combinations of specific mutations. All mutations were associated with specific haplotypes, while in some the observed beta zero-thalassemia was of the mild type due to a considerable production of Hb F. Volume 71, Issue 1, pp. 248-251, 01/01/1988 Copyright © 1988 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: T. H. J. Huisman Combinations of ß chain abnormal hemoglobins with each other or with ß-thalassemia determinants with known mutations: influence on phenotype Clin. Chem., October 1, 1997; 43(10): 1850 - 1856. [Abstract] [Full Text] [PDF]

	Copyright © 1988 by American Society of Hematology         Online ISSN: 1528-0020