Foetal haemoglobin in normal healthy adults: relationship with polymorphic sequences cis to the beta globin gene.
Eur J Hum Genet
; 10(5): 320-6, 2002 May.
Article
en En
| MEDLINE
| ID: mdl-12082507
ABSTRACT
We evaluated the effects of polymorphic markers within the beta globin gene cluster on HbF expression in two groups. These groups were randomly selected from a survey of HbF distribution in a large population study of unrelated healthy Algerian adults (n=827). The first group contained individuals with normal HbF levels (0.1-0.5%) and the second group contained individuals with raised HbF levels (0.8-2.3%). Of the various polymorphic markers analysed, only the -309 G gamma A-->G, the -158 G gamma C-->T, the G gamma IVS2 TC (TG)(9) AG (TG)(2) (CG)(2) and the -540 beta (AT)(9) T(5) sequence configurations were significantly associated with increased HbF levels. More than 84% of the subjects with elevated HbF levels carried one or several of these four marker configurations, suggesting that the beta globin gene cluster exerts a significant effect on HbF expression in healthy individuals.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Polimorfismo Genético
/
Hemoglobina Fetal
/
Globinas
Límite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Eur J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2002
Tipo del documento:
Article
País de afiliación:
Francia