Identification of the Chinese IVS-II-654 (C-->T) beta-thalassemia mutation in an immigrant Turkish family: recurrence or migration?

Hum Biol. 1999 Apr;71(2):295-302.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • DNA Mutational Analysis
  • Emigration and Immigration*
  • Female
  • Genetic Carrier Screening
  • Greece / ethnology
  • Haplotypes / genetics
  • Humans
  • Male
  • Microsatellite Repeats / genetics
  • Middle Aged
  • Mutation / genetics*
  • Pedigree
  • Polymorphism, Genetic / genetics
  • Turkey
  • beta-Thalassemia / genetics*