Hb Costa Rica | beta77(EF1)His->Arg |
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CONTACT | External | ||
HEMATOLOGY | Normal in the carrier | ||
ELECTROPHORESIS | Hb X can be separated from Hb A at alkaline pH (moves like Hb S) | ||
CHROMATOGRAPHY | Excellent separation by DEAE-cellulose chromatography | ||
STRUCTURE STUDIES | Tryptic digestion of isolated AE-betaX chain; separation of tryptic peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | See below | ||
FUNCTION STUDIES | Not determined | ||
STABILITY | Stable | ||
OCCURRENCE | Found in a Costa Rican female but not in her immediate relatives | ||
OTHER INFORMATION | The expected CAC->CGC mutation at codon 77 could not be observed in genomic DNA or in cDNA. However, a small amount of beta-Costa Rica cDNA (or mRNA) could be detected by ASO and dot-blot analysis with 32P-labeled probes. The same experiments were negative for genomic DNA. These results, the low level of the stable Hb Costa Rica (5-6%), and the unequal distribution of the variant over the red cells are explained by assuming a somatic mosaicism as the genetic basis of the occurrence of this variant. |
REFERENCES | |||
1. | Rodriguez Romero, W.E., Castillo, M., Chaves, M.A., Saenz, G.F., Gu, L-H., Wilson, J.B., Baysal, E., Smetanina, N.S., Leonova, J.Ye., and Huisman, T.H.J.: Hum. Genet., 97:829, 1996. | ||
2. | Smetanina, N.S., Gu, L-H., Rodriguez Romero, W.E., Howard, E.F., and Huisman, T.H.J.: Hemoglobin, 20:199, 1996. |