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Co‐inheritance of the Hb Sun Prairie mutation with a point mutation at 5′‐UTR in the eastern Indian population
Author(s) -
Sarkar Anjali A.,
Mukhopadhyay Chaitali,
Chandra Sharmila,
Banerjee Subrata,
Das M. K.,
Dasgupta Uma B
Publication year - 2005
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2005.05451.x
Subject(s) - point mutation , five prime untranslated region , genetics , mutant , biology , untranslated region , mutation , population , transition (genetics) , base pair , microbiology and biotechnology , dna , messenger rna , gene , medicine , environmental health
Summary Haemoglobin (Hb) Sun Prairie ( α 2‐globin cd130, G CT→ C CT, 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 α / β ‐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 α ‐globin faces primarily the central cavity of the molecule and is not in contact with any β ‐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.