Molecular basis and haplotype analysis of delta, beta-thalassemic chromosomes in Greece.
The molecular defect was defined in 38 delta beta-thalassemic chromosomes from 30 unrelated heterozygous and 4 homozygous patients of Greek origin. Restriction fragment beta-gene cluster haplotypes were studies in 23 delta beta-thalassemic chromosomes. The molecular lesion was identical in all studied cases and corresponds to the 'Sicilian' type of delta beta-thalassemia. Restriction haplotypes analysis has shown that, with one exception only, all Greek delta beta-thalassemic chromosomes bear the polymorphic sites which characterize haplotypes I or VII, the former being probable by indirect evidence. The striking similarities of the molecular lesion and the underlying haplotypes are consistent with two theories: (1) The deletion occurred once on a chromosome and spread all over Greece and the Mediterranean area thereafter; (2) the 5' subhaplotype +----favors the deletional event in the delta-beta gene area.
Viniou
N
N
First Department of Internal Medicine, University of Athens, Laikon General Hospital, Greece.
Georgiou
J
J
Loutradi
A
A
Rombos
J
J
Fessas
P
P
Loukopoulos
D
D
D001483:Base Sequence; D015139:Blotting, Southern; D002872:Chromosome Deletion; D002877:Chromosomes, Human / Q000235:genetics*; D004247:DNA / Q000032:analysis; D006115:Greece / Q000453:epidemiology; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family; D016133:Polymerase Chain Reaction / Q000379:methods; D015183:Restriction Mapping; D017086:beta-Thalassemia / Q000208:ethnology / Q000235:genetics*
D004247:DNA