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CONTACT | |
2,3-DPG contact | |
HEMATOLOGY | |
Mild polycythemia in the heterozygote | |
ELECTROPHORESIS | |
Two fast-moving Hb variants observed at alkaline pH; one (X-Asp) moves like Hb J, and the second (X-Asn) moves between Hb J and Hb A | |
CHROMATOGRAPHY | |
Both components can be isolated by DEAE-Sephadex chromatography; they also separate by cation exchange HPLC | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; cation exchange chromatography; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation AAG->AAT or AAC at codon 82 | |
FUNCTION STUDIES | |
Decreased oxygen affinity and 2,3-DPG binding; normal cooperativity | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in members of a Black family and in a Japanese family | |
OTHER INFORMATION | |
Quantity in the heterozygote: X-Asn 13-19%; X-Asp 32-33% | |
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REFERENCES |
1. | |
Moo-Penn, W.F., Jue, D.L., Bechtel, K.C., Johnson, M.H., Schmidt, M., McCurdy, P.R., Fox, J., Bonaventura, J., Sullivan, B., and Bonaventura, C.: J. Biol. Chem., 251:7557, 1976. | |
2. | |
Bonaventura, J., Bonaventura, C., Sullivan, B., Ferruzzi, G., McCurdy, P., Fox, J., and Moo-Penn, W.F.: J. Biol. Chem., 251:7563, 1976. | |
3. | |
Charache, S., Fox, J., McCurdy, P., Kazazian, H., Jr., and Winslow, R.: J. Clin. Invest., 59:652, 1977. | |
4. | |
Harano, K.: Kawasaki Med. J., 8:1, 1982. | |