Hb G-Pest | alpha74(EF3)Asp->Asn |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves to the position of Hb S on starch gel at alkaline pH | ||
CHROMATOGRAPHY | Hb X was isolated on a DEAE-Sephadex column | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by cation exchange chromatography; amino acid analysis; glycinamindation; CNBr; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GAC->AAC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a large Hungarian family | ||
OTHER INFORMATION | Found in combination with Hb J-Buda [alpha61(E10)Lys->Asn] and Hb A in the same individual; quantity in the heterozygote 23%; this study was the first to provide definitive information regarding the duplication of the alpha gene locus |
REFERENCES | |||
1. | Hollan, S.R., Szelenyi, J.G., Brimhall, B., Duerst, M., Jones, R.T., Koler, R.D., and Stocklen, Z.: Nature, 235:47, 1972. | ||
2. | Brimhall, B., Duerst, M., Hollan, S.R., Stenzel, P., Szelenyi, J., and Jones, R.T.: Biochim. Biophys. Acta, 336:344, 1974. |