http://www.cnr.it/ontology/cnr/individuo/prodotto/ID232594

Hb-M \"Hyde Park\": a de novo mutation, identified by mass spectrometry and DNA analysis (Articolo in rivista)

Type

Label

Hb-M \"Hyde Park\": a de novo mutation, identified by mass spectrometry and DNA analysis (Articolo in rivista) (literal)

Anno

Alternative label

Rotoli B, Camera A, Fontana R, Frigeri F, Pandolfi G, Vecchione R, Poggi V, Longo G, Carestia C, De Angioletti M, (1992)
Hb-M "Hyde Park": a de novo mutation, identified by mass spectrometry and DNA analysis
in Haematologica (Roma); Fondazione Ferrata Storti, Pavia (Italia)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Rotoli B, Camera A, Fontana R, Frigeri F, Pandolfi G, Vecchione R, Poggi V, Longo G, Carestia C, De Angioletti M, (literal)

Pagina inizio

Pagina fine

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

Rivista

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

Note

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

Divisione di Ematologia, 2a Facoltà Medica, Università di Napoli, Italy; Istituto di Genetica e Biofisica \"A. Buzzati Traverso\" (literal)

Titolo

Hb-M \"Hyde Park\": a de novo mutation, identified by mass spectrometry and DNA analysis (literal)

Abstract

BACKGROUND: Structural hemoglobinopathies usually are inherited as autosomic dominant traits; de novo mutations are uncommon. Analytical and preparative procedures for the characterization of an abnormal hemoglobin are complex and time-consuming. Mass spectrometer analysis allows a rapid identification of the amino acid substitution. METHODS AND RESULTS: A cyanotic 7-year-old girl was found to have 16% methemoglobin. Laboratory data showed the presence of an abnormal hemoglobin, which was isolated by collecting the abnormal peak from DEAE and globin chains from CM52. The amino acid substitution was rapidly identified by FAB mass spectroscopic analysis, leading to the recognition of HbM Hyde Park. These data were confirmed by molecular analysis (Southern blot and DNA sequencing). Neither the parents nor a sister showed any abnormality; non-paternity was excluded by blood group serology and HLA typing. CONCLUSIONS: This is a case of HbM Hyde-Park arising as a de novo mutation. FAB mass spectroscopic analysis is a rapid and useful analytical method for identifying aminoacid substitution (literal)

Editore