title: Study of the single nucleotide polymorphism (SNP) at the palindromic sequence of hypersensitive site (HS)4 of the human beta-globin locus control region (LCR) in Indian population.
abstract: LCR, a genetic regulatory element, was examined in beta-thalassemia patients who do not show any mutation in the beta-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 beta-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.
authors.affiliation: Functional Genomics Unit, Centre for Biochemical Technology (CSIR), Delhi University Campus, Delhi, India.
authors.forename: Ritushree
authors.initials: R
authors.lastname: Kukreti
authors.forename: Chandrika
authors.initials: C
authors.lastname: B-Rao
authors.forename: Swapan Kr
authors.initials: SK
authors.lastname: Das
authors.forename: Madhusnata
authors.initials: M
authors.lastname: De
authors.forename: Geeta
authors.initials: G
authors.lastname: Talukder
authors.forename: Flavian
authors.initials: F
authors.lastname: Vaz
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
authors.forename: Samir K
authors.initials: SK
authors.lastname: Brahmachari
mesh_terms: D005914:Globins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007194:India; D015810:Linkage Disequilibrium; D019901:Locus Control Region / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012045:Regulatory Sequences, Nucleic Acid; D017422:Sequence Analysis, DNA; D044465:White People; D017086:beta-Thalassemia / Q000201:enzymology / Q000235:genetics*
chemical_list: D005914:Globins