MUTATION		53/54 (+G); GCT·GTT(Ala-Val)->GCT·G·GTT
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The introduction of G between codons 53 and 54 leads to a frameshift with a stop codon at codon 59 (TGA) and premature termination of translation
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; cloning; dot-blot analysis with allele specific oligonucleotide probes
HEMATOLOGY IN HETEROZYGOTE(S)		Not provided
HEMATOLOGY IN HOMOZYGOTE(S)		None observed
OCCURRENCE		In one Japanese heterozygote
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
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.

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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.