Hb Rainier [β145(HC2)Tyr→cys] in Italy. Characterization of the amino acid substitution and the DNA mutation

Hemoglobin

Volumn 23, Issue 2, 1999, Pages 111-124

  Carbone, V ^a   Salzano, A M ^a   Pagano, L ^b   Viola, A ^b   Buffardi, S ^b   De Rosa, C ^b   Pucci, Piero ^a,c  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CARDARELLI HOSPITAL   (Italy)

^c CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HEMOGLOBIN VARIANT;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DNA POLYMORPHISM; DNA SEQUENCE; GENE MUTATION; HAPLOTYPE; HEMOGLOBIN DETERMINATION; HEMOGLOBINOPATHY; HUMAN; ITALY; LUNG EMBOLISM; MALE; POLYCYTHEMIA; ADOLESCENT; FEMALE; GENETICS; HEMOGLOBIN RAINIER; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; DNA; FEMALE; HEMOGLOBINS, ABNORMAL; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 0032588811     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.3109/03630269908996156     Document Type: Article

References (18)

1. 145 Tyrosine→Histidine): alkali-resistant hemoglobin with increased oxygen affinity. Science, 159:741-743, 1968.
2. Stamatoyannopoulos, G., and Yoshida, A.: Single chain alkali resistance in hemoglobin Rainier: β145 Tyrosine→Histidine. Science, 166:1005-1006, 1969.
3. Hayashi, A., Stamatoyannopoulos, G., Yoshida, A., and Adamson, J.: Haemoglobin Rainier: β145 (HC2) Tyrosine→Cysteine and Haemoglobin Bethesda: β145 (HC2) Tyrosine→ Histidine. Nature New Biol., 230:264-267, 1971.
4. Greer, J. and Perutz, M.F.: Three dimensional structure of Haemoglobin Rainier. Nature New Biol, 230:261-264, 1971.
5. 145Tyr→Cys). J. Biol. Chem., 10:285-290, 1972.
6. Adamson, J., Parer, J.T., and Stamatoyannopoulos, G.: Erythrocytosis associated with Hemoglobin Rainier: oxygen equilibria and marrow regulation. J. Clin. Invest., 48:1376-1386, 1969.
7. Amiconi, G., Winterhalter, K.H., Antonini, E., and Brunori, M.: Functional properties of Hemoglobin Rainier. FEBS Lett., 21:341-343, 1972.
8. 145Tyr→Cys). Biochem. Biophys. Res. Commun., 47:784-789, 1972.
9. Carrell, R.W. and Kay, R.: A simple method for the detection of unstable haemoglobins. Br. J. Haematol., 23:615-619, 1972.
10. Old, J.M., Varawalla, N.Y., and Weatherall, D.J.: Rapid detection and prenatal diagnosis of β-thalassaemia: studies in Indian and Cypriot populations in the UK. The Lancet, 6:834-837, 1990.
11. Orkin, S.H., Kazazian, H.H., Jr., Antonarakis, S.E., Goff, S.C., Boehm, C.D., Sexton, J.P., Waber, P.G., and Giardina, P.J.V.: Linkage of β-thalassemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature, 296:627-631, 1982.
12. Marsh, G., Marino, G., Pucci, P., Ferranti, P., Malorni, A., Kaeda, J., Marsh, J., and Luzzato, L.: A third instance of the high oxygen affinity variant, Hb Heathrow [β103(G5) Phe→Leu]: identification of the mutation by mass spectrometry and by DNA analysis. Hemoglobin, 15:43-51, 1991.
13. 2(145(HC2)Tyr→Cys) observed in members of a Canadian family of Greek origin. Hemoglobin, 3:209-213, 1979.
14. Charache, S., Brimhall, B., and Jones, R.T.: Polycythemia produced by Hemoglobin Osler (β145(HC2)Tyr→Asp). Johns Hopkins Med. J., 136:132-136, 1975.
15. Kleckner, H.B., Wilson, J.B., Lindeman, J.G., Stevens, P.D., Niazi, G., Hunter, E., Chen, C.J., and Huisman, T.H.J.: Hemoglobin Fort Gordon or α2β2 145 Tyr→Asp, a new high-oxygen-affinity hemoglobin variant. Biochim. Biophys. Acta, 400:343-347, 1975.
16. Gacon, G., Wajcman, H., and Labie, D.: Structural and functional study of Hb Nancy β145 (HC2) Tyr→Asp. A high oxygen affinity hemoglobin. FEBS Lett., 56:39-42, 1975.
17. Arnone, A.: X-ray and functional studies of Hemoglobins Nancy and Cochin-Port Royal. J. Biol. Chem., 251:5875-5880, 1976.
18. thal chromosomes and its usefulness in prenatal diagnosis. Br. J. Haematol., 67:231-234, 1987.