Codons.82-83.(-G),.AAG.GGC(Lys.Gly)-@AAG.html


MUTATION		Codons 82/83 (-G); AAG·GGC(Lys·Gly)->AAG·-GC

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The deletion of a G from codons 82/83 results in a premature termination of translation because of a stop codon at codon 88 (TGA)
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis of amplified DNA with mutation specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 11.6 g/dl; MCV 60 fl; MCH 19.4 pg; Hb A₂ 5.4%; Hb F<1.0%
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		Found in Azerbaijan, in two families from Czechoslovakia, and in a Croatian family
HAPLOTYPE		None
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		Most recently observed in a family related to one of the most famous Russian poets (Ref. 4)


REFERENCES
1.		Schwartz, E.I., Gol'tsov, A.A., Kaboev, O.K., Alexeev, A.A., Solovyev, G.Ya., Surin, V.L., Lukianenko, A.V., Vinogradov, S.V., and Berlin, Yu.A.: Nucleic Acids Res., 17:3997, 1989.
2.		Indrak, K., Brabec, V., Indrakova, J., Chrobakc, L., Sakalova, A., Jorsova, M., Cermak, J., Fei, Y-J., Kutlar, F., Gu, Y-C., Baysal, E., and Huisman, T.H.J.: Hum. Genet., 88:399, 1992.
3.		Jankovic, L., Dimovski, A.J., Efremov, G.D., and Juricic, D.: Hemoglobin, 16:291, 1992.
4.		Molchanova, T.P. and Huisman, T.H.J.: Personal communication, 1996.

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.