Co-inheritance of the Hb Sun Prairie mutation with a point mutation at 5'-UTR in the eastern Indian population.
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.
Sarkar
Anjali A
AA
Department of Biophysics, Molecular Biology and Genetics, Calcutta University, Calcutta, India.
Mukhopadhyay
Chaitali
C
Chandra
Sharmila
S
Banerjee
Subrata
S
Das
M K
MK
Dasgupta
Uma B
UB
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*
D020121:5' Untranslated Regions; D006455:Hemoglobins, Abnormal; C067961:hemoglobin Sun Prairie