In:
FEBS Letters, Wiley, Vol. 252, No. 1-2 ( 1989-07), p. 53-57
Abstract:
We have previously described the first homozygous cases of Hb Knossos in an Algerian family. The Hb A 2 was completely absent, ascertaining the presence of a δ°‐thalassemia determinant in cis of the β Knossos s gene. Here, we investigate the affected δ‐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 δ‐gene was subcloned in an expression vector and introduced into COS cells. Analysis of RNA derived from these cells, using an S 1 protection assay and dot‐blot hybridization, revealed qualitatively and quantitatively normal transcription. The loss of δ‐globin gene activity in vivo may be due to the alteration of a tissue‐specific control.
Type of Medium:
Online Resource
ISSN:
0014-5793
,
1873-3468
DOI:
10.1016/0014-5793(89)80888-9
Language:
English
Publisher:
Wiley
Publication Date:
1989
detail.hit.zdb_id:
1460391-3
SSG:
12
Permalink