Hb Hijiyama | beta120(GH3)Lys->Glu |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X is fast moving | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of the peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation AAA->GAA at codon 120 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in the mother and son of a Japanese family, and a diabetic Finnish boy | ||
OTHER INFORMATION | Quantity in the heterozygote 58% |
REFERENCES | |||
1. | Miyaji, T., Oba, Y., Yamamoto, K., Shibata, S., Iuchi, I., and Hamilton, H.B.: Science, 159:204, 1968. | ||
2. | Puukka, R., Hekali, R., Åkerblom, H.K., Käär, M-L., Dukes, M., and Lehmann, H.: Clin. Chim. Acta, 121:51, 1982. |