Codon.91.(+T).html


MUTATION		Codon 91 (+T)

AMINO ACID REPLACEMENT		None
TYPE OF DELTA-THAL		delta°
MECHANISM		Frameshift resulting in a premature termination of translation at codon 94
IDENTIFICATION		Amplification; DNA sequencing
% HB A₂ IN HETEROZYGOTE(S)		Hb A₂ quantitation by standard procedure (not defined); occurred with a ^Ggamma(^Agammadeltabeta)°-thal in trans; no Hb A₂ detected
% HB A₂ IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a Belgian family
HAPLOTYPE		Type III
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH DELTA-THAL ALLELE(S)		None
OTHER INFORMATION		None


REFERENCES
1.		Losekoot, M., Fodde, R., Giordano, P.C., and Bernini, L.F.: Hum. Genet., 83:75, 1989.

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.