Delta zero-thalassemia in cis of beta Knossos-globin gene. Normal structure transient expression of the delta-globin gene.
FEBS Lett
; 252(1-2): 53-7, 1989 Jul 31.
Article
em En
| MEDLINE
| ID: mdl-2759233
ABSTRACT
We have previously described the first homozygous cases of Hb Knossos in an Algerian family. The Hb A2 was completely absent, ascertaining the presence of a delta zero-thalassemia determinant in cis of the beta Knossos S gene. Here, we investigate the affected delta-globin gene. The complete DNA sequence of the gene and its 5' and 3' flanking regions was determined. Only two nucleotide changes were recorded a C----T substitution at -199 and an AT insertion at -448 upstream from the cap site. To examine the involvement of these changes in gene function, the delta-gene was subcloned in an expression vector and introduced into COS cells. Analysis of RNA derived from these cells, using an S1 protection assay and dot-blot hybridization, revealed qualitatively and quantitatively normal transcription. The loss of delta-globin gene activity in vivo may be due to the alteration of a tissue-specific control.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Talassemia
/
Globinas
/
Hemoglobinas Anormais
/
Regulação da Expressão Gênica
Limite:
Humans
Idioma:
En
Ano de publicação:
1989
Tipo de documento:
Article