Codon.90.(G-@T),.GAG(Glu)-@TAG(stop.codo.html


MUTATION		Codon 90 (G->T); GAG(Glu)->TAG(stop codon)

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This G->T mutation creates a stop codon (codon 90) terminating translation
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis of amplified DNA with allele specific probes
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 9-12 g/dl; MCV 60-63 fl; MCH 19-20 fl; Hb A₂ 4.0, 6.6, 6.7%; Hb F 1.5-2.5%; beta/alpha ratio 0.51-0.57
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In a few Japanese families
HAPLOTYPE		Not done
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None


REFERENCES
1.		Fucharoen, S., Katsube, T., Fucharoen, G., Sawada, H., Oishi, H., Katsuno, M., Nishimura, J., Motomura, S., Miura, Y., and Fukumaki, Y.: Br. J. Haematol., 74:101, 1990.
2.		Hattori, Y., Yamamoto, Ku., Yamashiro, Y., Ohba, Y., Miyamura, S., Yamamoto, Ki., Matsuno, Y., Morishita, M., Miyaji, T., and Era, T.: Hemoglobin, 16:93, 1992.

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.