Molecular basis and haplotype analysis of delta, beta-thalassemic chromosomes in Greece.
Acta Haematol
; 92(2): 83-7, 1994.
Article
em En
| MEDLINE
| ID: mdl-7817708
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Haplótipos
/
Cromossomos Humanos
/
Talassemia beta
Limite:
Humans
País/Região como assunto:
Europa
Idioma:
En
Revista:
Acta Haematol
Ano de publicação:
1994
Tipo de documento:
Article
País de afiliação:
Grécia