Detection of alpha-globin gene disorders by a simple PCR methodology.
BACKGROUND
alpha thalassemias are very common in all thalassemic areas; however, complete knowledge of the phenotypic, genotypic and epidemiological features of these thalassemias has not yet been achieved for a number of reasons: the frequent absence of a thalassemic hematologic picture, the lack of a specific characteristic comparable to the Hb A2 increase for beta thalassemias, and the almost complete homology between the two alpha genes.


RESULTS
A new set of PCR techniques, each based on primer(s) specific for a particular type of alpha globin gene disorder, has been devised in our laboratory. The procedures are simple, and non-radioactive. They lead to the identification of all alpha globin disorders common in the Mediterranean area [-alpha 3.7, -alpha 4.2, alpha Hphl, alpha Ncol, --MED, -(alpha)20.5, alpha alpha alpha anti3.7]. The electrophoretic patterns specific for the main alpha globin alterations as observed with this set of techniques, are presented.


CONCLUSIONS
Owing to their advantageous properties, these techniques are suitable for precise molecular characterization of the numerous subjects selected through mass population screenings.
Foglietta
E
E
Associazione Nazionale per la Lotta contro le Microcitemie in Italia, Rome, Italy.
Deidda
G
G
Graziani
B
B
Modiano
G
G
Bianco
I
I
D017931:DNA Primers; D005914:Globins / Q000235:genetics*; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D017931:DNA Primers; D005914:Globins