Identification of the chinese IVS-II-654 (C→T) β-thalassemia mutation in an immigrant Turkish family: Recurrence or migration?

Ghazi Omar Tadmouri, Onur Bilenoǧlu, Ferdane Kutlar, Rhea-Beth Markowitz, Abdullah Kutlar, A. Nazli Başak

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

In this study we describe the Chinese IVS-II-654 (C→T) β-thalassemia mutation for the first time in an immigrant Turkish family living in Istanbul and originating from Xanthe, Greece. Four members of the family, representing 3 generations, are heterozygous for this mutation. A detailed family history demonstrated a Greek origin for members of 5 generations with no records of migration or consanguineous marriages. Analysis of polymorphic nucleotides located at the 5' end of the β-globin chromosomes bearing the IVS-II-654 mutation in the family described carried the (AT)9(T)5 type of microsatellite sequence and the ACATCCCCA haplotype. These 2 haplotype components favor a non-Eastern Asian origin for this chromosome, hence suggesting an independent origin for the IVS-II-654 mutation described in this family.

Original languageEnglish (US)
Pages (from-to)295-302
Number of pages8
JournalHuman Biology
Volume71
Issue number2
StatePublished - Apr 1 1999

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics
  • Genetics(clinical)

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