Molecular characterization of beta-thalassaemia in 174 Greek patients with thalassaemia major.
The mutations producing beta-thalassaemia in 174 Greek patients with thalassaemia major were investigated by dot-blot hybridization of oligonucleotide probes to genomic DNA amplified by the polymerase chain reaction procedure, by direct sequencing of amplified DNA, and by gene mapping. beta-thalassaemia in Greeks was found to be very heterogeneous at the molecular level as 17 different mutations were observed: 86.6% of the beta-thalassaemic genes, however, could be identified with five probes: IVS-I-110 (G----A) (42.5%), codon 39 (C----T) (17%), IVS-I-1 (G----A) (13.2%), IVS-I-6 (T----C) (7.2%) and IVS-II-745 (C----G) (6.9%). Several mutations which had not previously been reported in the Greek population and which occurred at an incidence of 2% or lower were observed in this study. The information obtained will facilitate the prenatal diagnosis of beta-thalassaemia in Greece.
Kattamis
C
C
First Department of Pediatrics, University of Athens, Greece.
Hu
H
H
Cheng
G
G
Reese
A L
AL
Gonzalez-Redondo
J M
JM
Kutlar
A
A
Kutlar
F
F
Huisman
T H
TH
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006115:Greece; D006801:Humans; D009154:Mutation; D015345:Oligonucleotide Probes; D011296:Prenatal Diagnosis / Q000379:methods; D013789:Thalassemia / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*
D015345:Oligonucleotide Probes