Hb J-Kurosh | alpha19(AB1)Ala->Asp |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves to the position of Hb J on cellulose acetate and starch gel | ||
CHROMATOGRAPHY | Hb X was isolated by DEAE-Sephadex chromatography | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis of selected peptides | ||
DNA ANALYSES | Not reported; presumed mutation GCG->? (undefined); GCC-> GAC?; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a healthy Iranian male | ||
OTHER INFORMATION | Quantity in the heterozygote 25% | ||
NOTE | Codon 19 is presumed to be GCG but may be GCC in some populations; a one base change of GCC can result in GAC and explain the Ala->Asp replacement |
REFERENCES | |||
1. | Rahbar, S., Ala, F., Akhavan, E., Nowzari, G., Shoa'i, I., and Zamanianpoor, M.H.: Biochim. Biophys. Acta, 427:119, 1976. |