Hb J-Buda | alpha61(E10)Lys->Asn |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X moves to the position of Hb J on starch gel | ||
CHROMATOGRAPHY | Hb X was isolated on a DEAE-Sephadex column | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by cation exchange chromatography; glycinamidation; CNBr; chymotrypsin; thermolysin; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation AAG->AAC or AAT; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a large Hungarian family | ||
OTHER INFORMATION | Found in combination with Hb G-Pest [alpha74(EF3)Asp->Asn] and Hb A in three individuals (causes erythrocytosis); this family study was the first to offer convincing evidence for the presence of duplicated alpha-globin genes in humans |
REFERENCES | |||
1. | Hollan, S.R., Szelenyi, J.G., Brimhall, B., Duerst, M., Jones, R.T., and Koler, R.D.: 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. |