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Keywords:

  • β-thalassemia;
  • β-globin gene;
  • locus control region;
  • hypersensitive site;
  • single nucleotide polymorphism

Abstract

LCR, a genetic regulatory element, was examined in β-thalassemia patients who do not show any mutation in the β-globin genes. We sequenced LCR-HS2, HS3, and HS4 in samples from 16 such patients from the Indian population and found only one SNP A-G in the inverted repeat in HS4. A significant association was observed between the G allele and occurrence of β-thalassemia by Fisher's exact test. The AG and GG genotypes showed higher relative risk as compared to the AA genotype. We also observed linkage disequilibrium between the A/G polymorphism and the AT-rich motif of the LCR HS2 region, suggesting that the G allele could be an evolutionarily new mutation in the study population. Am. J. Hematol. 69:77-79, 2002. © 2002 Wiley-Liss, Inc.