DNAase I Hypersensitive Site 3′ to the β-Globin Gene Cluster Containing Two TAA Insertions and a G→A Polymorphism is Predominantly Associated with the β⁺-Thalassemia IVS-I-6 (T→C) Mutation

Juliana T. N Martins Haematology and Haemotherapy Centre, State University of Campinas, Rua Carlos Chagas, 480, Cidade Universitária Zeferino Vaz, Barão Geraldo, Campinas, CEP: 13083-970, São Paulo, Brazil

Silvana Bordin Department of Physiology and Biophysics, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil

Dulcinéia M. de Albuquerque Haematology and Haemotherapy Centre, State University of Campinas, Rua Carlos Chagas, 480, Cidade Universitária Zeferino Vaz, Barão Geraldo, Campinas, CEP: 13083-970, São Paulo, Brazil

Sara T. O Saad Haematology and Haemotherapy Centre, State University of Campinas, Rua Carlos Chagas, 480, Cidade Universitária Zeferino Vaz, Barão Geraldo, Campinas, CEP: 13083-970, São Paulo, Brazil; Department of Clinical Medicine, State University of Campinas, São Paulo, Brazil

Fernando F. Costa Haematology and Haemotherapy Centre, State University of Campinas, Rua Carlos Chagas, 480, Cidade Universitária Zeferino Vaz, Barão Geraldo, Campinas, CEP: 13083-970, São Paulo, Brazil; Department of Physiology and Biophysics, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil; Haematology and Haemotherapy Centre, State University of Campinas, Rua Carlos Chagas, 480, Cidade Universitária Zeferino Vaz, Barão Geraldo, Campinas, CEP: 13083-970, São Paulo, Brazil

Abstract

Analysis of DNA polymorphic sites is an important tool for the detection of gene flow in human evolutionary studies and to study the genetic background for gene mutations. The β-globin locus contains several single-base restriction fragment length polymorphism (RFLP) sites throughout chromosome 11. In addition to these polymorphic sequence repeats, others are being studied in order to expand our knowledge concerning the role between haplotype-genotype and phenotype associations. Far downstream of the expressed β-globin genes, there is a hypersensitive site (HS) whose function remains obscure. We sequenced this region in 27 thalassemia patients and found a new pattern in the micro-satellite-like AT-rich region of this site: a new TAA insertion in addition to the one previously described in sickle cell patients with a concomitant polymorphism (G→A). This new variation was found to be linked to the IVS-I-6 (T→C) mutation. This polymorphism may be useful for studies concerning genotype and phenotype associations.

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DNAase I Hypersensitive Site 3′ to the β-Globin Gene Cluster Containing Two TAA Insertions and a G→A Polymorphism is Predominantly Associated with the β⁺-Thalassemia IVS-I-6 (T→C) Mutation

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DNAase I Hypersensitive Site 3′ to the β-Globin Gene Cluster Containing Two TAA Insertions and a G→A Polymorphism is Predominantly Associated with the β+-Thalassemia IVS-I-6 (T→C) Mutation

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DNAase I Hypersensitive Site 3′ to the β-Globin Gene Cluster Containing Two TAA Insertions and a G→A Polymorphism is Predominantly Associated with the β⁺-Thalassemia IVS-I-6 (T→C) Mutation