title: Identification of the Chinese IVS-II-654 (C-->T) beta-thalassemia mutation in an immigrant Turkish family: recurrence or migration?
abstract: In this study we describe the Chinese IVS-II-654 (C-->T) beta-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 beta-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.
authors.affiliation: Department of Molecular Biology and Genetics, Boğaziçi University, Bebek, Istanbul, Turkey.
authors.forename: G O
authors.initials: GO
authors.lastname: Tadmouri
authors.forename: O
authors.initials: O
authors.lastname: Bilenoğlu
authors.forename: F
authors.initials: F
authors.lastname: Kutlar
authors.forename: R B
authors.initials: RB
authors.lastname: Markowitz
authors.forename: A
authors.initials: A
authors.lastname: Kutlar
authors.forename: A N
authors.initials: AN
authors.lastname: Başak
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D004641:Emigration and Immigration; D005260:Female; D006580:Genetic Carrier Screening; D006115:Greece / Q000208:ethnology; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D014421:Turkey; D017086:beta-Thalassemia / Q000235:genetics*