MUTATION | Codon 76 (-C); GCT(Ala)->G-T | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | The deletion of C from codon 76 results in a premature termination of translation; stop codon at codon 88 (TGA) | ||
IDENTIFICATION | Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Giambona, A., Lo Gioco, P., Marino, M., Abate, I., Di Marzo, R., Renda, M., Di Trapani, F., Messana, F., Siciliano, S., Rigano, P., Chehab, F.F., Kazazian, H.h., and Maggio, A.: Hum. Genet., 95:526, 1995. |