Hb F-Sardinia (AgammaT) | Agamma75(E19)Ile->Thr |
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ELECTROPHORESIS | No separation reported | ||
IEF | (Nearly) no separation | ||
CHROMATOGRAPHY | No separation | ||
CHAIN SEPARATION | AgammaT = ~15%; Ggamma = ~70%; AgammaI = ~15% | ||
STRUCTURE STUDIES | Tryptic digestion of AE-gammaX chain; separation of peptides by fingerprinting or reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | An ATA->ACA mutation at codon 75 | ||
NOTES | Found at high frequencies in nearly all populations; quantity in heterozygotes ~15% of total Hb F |
REFERENCES | |||
1. | Grifoni, V., Kamuzora, H., Lehmann, H., and Charlesworth, D.: Acta Haematol., 53:347, 1975. | ||
2. | Huisman, T.H.J., Schroeder, W.A., Reese, A., Wilson, J.B., Lam, H., Shelton, J.R., Shelton, J.B., and Baker, S.: Pediatr. Res., 11:1102, 1977. | ||
3. | Huisman, T.H.J., Kutlar, F., Nakatsuji, T., Bruce-Tagoe, A., Kilinç, Y., Cauchi, M.N., and Romero Garcia, C.: Hum. Genet., 71:127, 1985. |