Hb A2-NYU | delta12(A9)Asn->Lys |
---|
CONTACT | External | ||
ELECTROPHORESIS | Hb X moves slower than Hb A2; like Hb B2 (see delta16) | ||
IEF | Same | ||
CHROMATOGRAPHY | Hb X can be isolated by DEAE-cellulose or Sephadex chromatography; Hb X elutes ahead of Hb A2 | ||
STRUCTURE ANALYSIS | Tryptic digestion of deltaX chain; separation of peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSIS | Not reported; presumed mutation AAT->AAA at codon 12 | ||
NOTES | Found in a few Russian, Greek, Ukrainian, Dutch, and Jewish families; also found in combination with beta-thal trait |
REFERENCES | |||
1. | Aksoy, M. and Erdem, S.: Israel J. Med. Sci., 2:310, 1966. | ||
2. | Ranney, H.M., Jacobs, A.S., Ramot, B., and Bradley, T.B.: J. Clin. Invest., 48:2057, 1969. | ||
3. | Vella, F., Wong, S.C., Wilson, J.B., and Huisman, T.H.J.: Canad. J. Biochem., 50:841, 1972. | ||
4. | De Jong, W.W.W. and Went, L.N.: Hum. Hered., 24:32, 1974. | ||
5. | Carter, N.D., Casey, R., and Lehmann, H.: Hum. Hered., 25:13, 1974. |