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.
Tadmouri, Ghazi Omar; Bilenouğlu, Onur; Kutlar, Ferdane; Markowitz, Rhea-Beth; Kutlar, Abdullah; and Başak, Nazli
"Identification of the Chinese IVS-II-654 (C --> ) β-Thalassemia Mutation in an Immigrant Turkis Family: Recurrence of Migration?,"
2, Article 10.
Available at: https://digitalcommons.wayne.edu/humbiol/vol71/iss2/10