title: Co-inheritance of the Hb Sun Prairie mutation with a point mutation at 5'-UTR in the eastern Indian population.
abstract: Haemoglobin (Hb) Sun Prairie (alpha2-globin cd130, GCT-->CCT, Ala-->Pro) is detected in three unrelated chromosomes, in association with a C-->T transition in the 5'-untranslated region (UTR), two bases upstream from the translation start site. Reported inversion of alpha/beta-mRNA ratio observed in Hb Sun Prairie mutants might stem from the second mutation and should be investigated. Molecular modelling studies indicate that the 130th residue of alpha-globin faces primarily the central cavity of the molecule and is not in contact with any beta-chain residue; further, no significant disruption of the Hb structure because of the Sun Prairie mutation is discernible. Depression of translation because of the second mutation of a conserved base in the 5'-UTR might explain the observed clinical severity.
authors.affiliation: Department of Biophysics, Molecular Biology and Genetics, Calcutta University, Calcutta, India.
authors.forename: Anjali A
authors.initials: AA
authors.lastname: Sarkar
authors.forename: Chaitali
authors.initials: C
authors.lastname: Mukhopadhyay
authors.forename: Sharmila
authors.initials: S
authors.lastname: Chandra
authors.forename: Subrata
authors.initials: S
authors.lastname: Banerjee
authors.forename: M K
authors.initials: MK
authors.lastname: Das
authors.forename: Uma B
authors.initials: UB
authors.lastname: Dasgupta
mesh_terms: D020121:5' Untranslated Regions; D001345:Autoradiography; D015139:Blotting, Southern; D002675:Child, Preschool; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D008958:Models, Molecular; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014176:Protein Biosynthesis; D020836:Protein Structure, Quaternary; D017085:alpha-Thalassemia / Q000208:ethnology / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; D006455:Hemoglobins, Abnormal; C067961:hemoglobin Sun Prairie