Abstract
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) |
---|---|
Pages (from-to) | 1-6 |
Number of pages | 6 |
Journal | Journal of Molecular and Applied Genetics |
Volume | 3 |
Issue number | 1 |
State | Published - 1985 |
Externally published | Yes |
ASJC Scopus subject areas
- General Biochemistry, Genetics and Molecular Biology
- Genetics
- Molecular Biology