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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
Author(s) -
Kukreti Ritushree,
BRao Chandrika,
Das Swapan Kr,
De Madhusnata,
Talukder Geeta,
Vaz Flavian,
Verma I.C.,
Brahmachari Samir K.
Publication year - 2002
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.10026
Subject(s) - genetics , linkage disequilibrium , biology , genotype , single nucleotide polymorphism , locus control region , locus (genetics) , allele , population , snp , allele frequency , microbiology and biotechnology , haplotype , gene , promoter , medicine , gene expression , environmental health
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.