title: Influence of BCL11A, HBS1L-MYB, HBBP1 single nucleotide polymorphisms and the HBG2 XmnI polymorphism On Hb F levels.
abstract: In search of genetic alterations responsible for high fetal hemoglobin (Hb F) phenotypes in the population of eastern India, 91 probands were screened for four polymorphisms by sequencing and/or restriction fragment length polymorphism (RFLP) analysis. These are the A>G allele on the rs4895441 locus in the intergenic region between HBS1L and MYB on chromosome 6, the G>A allele on the rs4671393 locus on chromosome 2 (BCL11A gene), the A>C allele on the rs2071348 (HBBP1 gene) and the XmnI polymorphism (rs7482144, -158 position of HBG2) on chromosome 11. We found a significant association (p = 0.002 and 0.0013) of Hb F levels with rs2071348 and rs4895441, respectively. However, the polymorphism rs4671393 gene did not show significant association with Hb F levels (p = 0.0655). As is well known, the XmnI polymorphism (p <0.0001) showed the strongest association.
authors.affiliation: Department of Biophysics, Molecular Biology & Bioinformatics, University of Calcutta, Kolkata, India.
authors.forename: Papai
authors.initials: P
authors.lastname: Roy
authors.forename: Gargi
authors.initials: G
authors.lastname: Bhattacharya
authors.forename: Amrita
authors.initials: A
authors.lastname: Mandal
authors.forename: Uma B
authors.initials: UB
authors.lastname: Dasgupta
authors.forename: Debasis
authors.initials: D
authors.lastname: Banerjee
authors.forename: Sarmila
authors.initials: S
authors.lastname: Chandra
authors.forename: Manikanchan
authors.initials: M
authors.lastname: Das
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000235:genetics / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D021901:DNA, Intergenic; D005260:Female; D005319:Fetal Hemoglobin / Q000378:metabolism*; D020570:Genes, myb; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012097:Repressor Proteins; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics; D055545:gamma-Globins / Q000235:genetics*
chemical_list: C486563:BCL11A protein, human; D002352:Carrier Proteins; D021901:DNA, Intergenic; D009687:Nuclear Proteins; D012097:Repressor Proteins; D055544:beta-Globins; D055545:gamma-Globins; D005319:Fetal Hemoglobin