INFLUENCE OF BCL11A, HBS1L-MYB, HBBP1 SINGLE NUCLEOTIDE POLYMORPHISMS AND THE HBG2 XmnI POLYMORPHISM ON Hb F LEVELS

作者：Roy Papai; Bhattacharya Gargi; Mandal Amrita; Dasgupta Uma B^*; Banerjee Debasis; Chandra Sarmila; Das Manikanchan

来源：Hemoglobin, 2012, 36(6): 592-599.

DOI：10.3109/03630269.2012.735626

• Fetal hemoglobin (Hb F)
• Thalassemia
• Trans polymorphisms
• HBBP1
• India

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%26gt;G allele on the rs4895441 locus in the intergenic region between HBS1L and MYB on chromosome 6, the G%26gt;A allele on the rs4671393 locus on chromosome 2 (BCL11A gene), the A%26gt;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 %26lt; 0.0001) showed the strongest association.

• 出版日期2012