Hemoglobin Koya Dora: high frequency of a chain termination mutant.
Approximately 10% of the members of the Koya Dora tribe from Andhra Pradesh (India) carry an alpha chain hemoglobin variant, Hb Koya Dora (Hb KD), usually in amounts of 0.5%-2% of total hemoglobin. In four presumed homozygotes for Hb KD, up to 10% of the abnormal hemoglobin was present. The alpha chain of Hb KD was found to be elongated by at least 16 residues, possibly as a result of a mutation of the normal alpha chain termination codon UAA TO UCA, coding for serine. A pedigree in which two individuals possess Hb KD as well as the alpha chain variant Hb Rampa and normal Hb A proves the existence of two alpha chain loci in this population. Hb DK resembles the previously described Hb Constant Spring [6, 7] in many aspects, probably also in its alpha thalassemia-like expression.
D000596:Amino Acids / Q000032:analysis; D002848:Chromatography, DEAE-Cellulose; D002874:Chromosome Mapping; D004592:Electrophoresis, Starch Gel; D005260:Female; D005787:Gene Frequency; D005914:Globins / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000302:isolation & purification*; D006720:Homozygote; D006801:Humans; D007194:India; D008297:Male; D009154:Mutation; D010375:Pedigree; D010455:Peptides / Q000032:analysis
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D010455:Peptides; D005914:Globins