MUTATION		-77 (T->C)
AMINO ACID REPLACEMENT		None
TYPE OF DELTA-THAL		delta° (?)
MECHANISM		See below
IDENTIFICATION		Amplification or cloning of the delta-globin gene; dot-blot hybridization
% HB A2 IN HETEROZYGOTE(S)		By DEAE-cellulose chromatography; 0.7-1.6% (n=17)
% HB A2 IN HOMOZYGOTE(S)		Zero in 10 homozygotes
OCCURRENCE		In several Japanese families
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH DELTA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		The mutation is located in the inverted binding motif for GATA-1; gel retardation experiments have shown that this transcription factor binds to nts -61 to -90 and not to this sequence with the T->C change at -77

REFERENCES
1.		Ohta, Y., Yasukawa, M., Saito, S., Fujita, S., and Kobayashi, Y.: Hemoglobin, 4:417, 1980.
2.		Nakamura, T., Takihara, Y., Ohta, y., Fujita, S., Takagi, Y., and Fukumaki, Y.: Blood, 70:809, 1987.
3.		Matsuda, M., Sakamoto, N., and Fukumaki, Y.: Blood, 80:1347, 1992.

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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.