Study of the single nucleotide polymorphism (SNP) at the palindromic sequence of hypersensitive site (HS)4 of the human β-globin locus control region (LCR) in Indian population
Article first published online: 18 DEC 2001
Copyright © 2002 Wiley-Liss,Inc.
American Journal of Hematology
Volume 69, Issue 1, pages 77–79, January 2002
How to Cite
Kukreti, R., B-Rao, C., Das, S. K., De, M., Talukder, G., Vaz, F., Verma, I.C. and Brahmachari, S. K. (2002), Study of the single nucleotide polymorphism (SNP) at the palindromic sequence of hypersensitive site (HS)4 of the human β-globin locus control region (LCR) in Indian population. Am. J. Hematol., 69: 77–79. doi: 10.1002/ajh.10026
- Issue published online: 20 DEC 2001
- Article first published online: 18 DEC 2001
- Manuscript Accepted: 15 AUG 2001
- Manuscript Received: 15 JUN 2001
- β-globin gene;
- locus control region;
- hypersensitive site;
- single nucleotide polymorphism
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.