Two β globin gene alleles have been cloned and characterized from a patient with β+ thalassemia. Both β genes have single base mutations in the small intervening sequence (IVS 1); one 6 nucleotides and the other 110 nucleotides from the 5' end of IVS 1. Both genes lead to abnormal splicing of β globin mRNA precursors when expressed in HeLa cells. Despite the fact that both alleles produce some normal β globin mRNA transcripts, the patient has clinically severe β+ thalassemia (Cooley's anemia).
|Original language||English (US)|
|Number of pages||6|
|Journal||Journal of Molecular and Applied Genetics|
|State||Published - 1985|
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)
- Molecular Biology