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.


This material is from the book A Syllabus of Thalassemia Mutations (1997) by Titus H.J. Huisman, Marianne F.H. Carver, and Erol Baysal, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1997 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without permission in writing from the Author.