The association between intragenic SNP haplotypes and mutations of the beta globin gene in a Turkish population

Bilgen T., Arikan Y., Canatan D., Yesilipek A., KESER İ.

BLOOD CELLS MOLECULES AND DISEASES, vol.46, no.3, pp.226-229, 2011 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 3
  • Publication Date: 2011
  • Doi Number: 10.1016/j.bcmd.2011.01.004
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.226-229
  • Keywords: Beta thalassemia, Haplotyping, SNP, Haploview, Beta globin gene mutations, THALASSEMIA MUTATIONS, CLUSTER HAPLOTYPES, TURKEY, ORIGIN, DNA, POLYMORPHISMS, DIVERSITY, ANTALYA, HISTORY
  • Akdeniz University Affiliated: Yes


Identification of the beta globin gene mutation-related haplotypes is of interest for the delineation of the clinical heterogeneity as well as understanding of the origin and spreading of the beta globin gene mutations. We screened the whole beta globin gene in 197 Turkish patients by direct sequencing and performed Haploview analyses for beta globin gene haplotyping using five common intragenic SNPs: rs713040, rs10768683, rs7480526, rs7946748, and rs1609812. We found 25 different beta globin gene point mutations by sequencing. A Turkish type of inv/del mutation by MLPA and Gap-PCR was also detected with additional studies. The seven most common mutations with higher frequency of 5% were IVS-I-110 (G>A) (35.6%), Hb S (10.6%), IVS-I-6 (T>C) (7.4%), IVS-I-1 (G>A) (6.9%), IVS-II-1 (G>A) (6.9%), Cod8(-AA) (6%), IVS-II-745 (C>G) (5.1%) and accounted for 78.7% of all mutations. We identified seven different haplotypes (Haplotype I-VII) using five intragenic single nucleotide polymorphisms (SNPs) genotyped by sequencing of the beta globin gene. The association between the mutations and the haplotypes was defined for 16 different mutations. We suggest that haplotyping by these five intragenic SNPs will provide useful information about the origin of the mutations and gene flow among as well as the explanation of the clinical heterogeneity. (C) 2011 Elsevier Inc. All rights reserved.