Spectrum of beta-thalassemia mutations in Calabria: implications for prenatal diagnosis.
Using a combination of oligonucleotide probes and restriction endonuclease enzymes, we characterize beta-thalassemic mutations in 91 homozygous patients and 86 unrelated carriers. Overall, 268 beta-thalassemic genes were obtained. Eleven beta-globin mutations were identified, confirming the wide molecular heterogeneity of beta-thalassemia in Calabria. Information from the present study represents the mainstay for the development of a program of early prenatal diagnosis by direct detection of mutations in Calabria.
Magro
S
S
Servizio di Microcitemia ed emopatie infantili, Soveria Mannelli, Catanzaro, Italy.
Santilli
E
E
Mancuso
R
R
Puzzonia
P
P
Consarino
C
C
Morgione
S
S
Galati
M C
MC
Fersini
G
G
Madonna
G
G
Brancati
C
C
D003062:Codon; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007558:Italy; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D003062:Codon