Hb Agenogi is a B chain variant characterized by slightly reduced oxygen affinity and not associated with any appreciable clinical manifestation (1). Since its first observation in Japan (2), it has been detected in some families of different racial origin, namely American Black (3), Hungarian (4), and two different Italian families (5,6). Detailed structural and functional studies on Hb Agenogi have been reported (1,7), while no data are available about the DNA molecular defect associated with this variant. In this paper we report a new case of Hb Agenogi discovered in an Italian woman and describe the molecular characterization of the variant performed through sequencing of amplified DNA.
Hb Agenogi [beta 90(F6)Glu-->Lys] identified by DNA analysis / R. Paleari, A. Mosca, A. Maccaronio, G. De Bellis, S. Debernardi, F. Lang, L. Luzi. - In: HEMOGLOBIN. - ISSN 0363-0269. - 18:4-5(1994 Sep), pp. 347-351.
|Titolo:||Hb Agenogi [beta 90(F6)Glu-->Lys] identified by DNA analysis|
PALEARI, RENATA (Primo)
MOSCA, ANDREA (Secondo)
LUZI, LIVIO (Ultimo)
|Parole Chiave:||Globins; Base Sequence; Diabetes Mellitus, Type 1; Humans; DNA Mutational Analysis; Hemoglobins, Abnormal; Adult; Molecular Sequence Data; Cushing Syndrome; Italy; Female|
|Settore Scientifico Disciplinare:||Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica|
|Data di pubblicazione:||set-1994|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.3109/03630269408996202|
|Appare nelle tipologie:||01 - Articolo su periodico|