Detailed gene mapping analyses of genomic DNA from two Turkish subjects with a β-thalassemia trait demonstrated an ~300 bp deletion, which is located between the Rsa I restriction site 128 bp 5' to the Cap site and the Acc I restriction site 284 bp 3' to the same Cap site; it includes the 5' β promoter region, the first exon, and (part of) the IVS-I. Heterozygotes for this and two other β-thalassemia types, which are also caused by deletions involving 5' β promoter sequences, appear to have higher hemoglobin (Hb) A2 levels, perhaps because the loss of this promoter results in an increased transcription of the δ globin gene, as δ and β promoters may be influenced by the same enhancing sequences 3' to the β globin gene.
|Original language||English (US)|
|Number of pages||4|
|Publication status||Published - Jan 1 1987|
ASJC Scopus subject areas
- Cell Biology