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Abnormal processing of beta-Malay globin RNA.
- Source :
-
Biochemical and biophysical research communications [Biochem Biophys Res Commun] 1989 Aug 30; Vol. 163 (1), pp. 8-13. - Publication Year :
- 1989
-
Abstract
- Hemoglobin Malay (alpha 2 beta 2 19 Asn----Ser) has been observed in a few Malaysian patients with thalassemia intermedia. The beta Malay substitution increases the homology of the cryptic splice site at codons 17/18/19 of the beta-globin gene to the donor consensus splice sequence, suggesting that the beta-thalassemia associated with this mutation may be due to the generation of a new splice site. To test this hypothesis, we constructed a hybrid gene where we replaced part of a normal beta-globin gene with a PCR amplified region of the beta Malay gene. The expression of this mutant gene was studied in a heterologous transient expression system. The data show that nearly 25% of globin mRNA produced by this gene is abnormally spliced at the new splice site, providing a molecular mechanism for the beta-thalassemia associated with the mutation.
Details
- Language :
- English
- ISSN :
- 0006-291X
- Volume :
- 163
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Biochemical and biophysical research communications
- Publication Type :
- Academic Journal
- Accession number :
- 2775294
- Full Text :
- https://doi.org/10.1016/0006-291x(89)92090-1