MUTATION		Codons 106/107 (+G); CTG·GGC(Leu·Gly)->CTG·G·GC
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The introduction of G between codons 106 and 107 causes a frameshift with a terminating codon at codon 139 (TAA)
IDENTIFICATION		Amplification of the beta-globin gene; sequencing of the amplified DNA
HEMATOLOGY IN HETEROZYGOTE(S)		Not presented
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In an American Black
HAPLOTYPE		Not presented
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not observed
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not observed
OTHER INFORMATION		Not observed; no attempt was made to isolate a possibly abnormal Hb or abnormal beta chain with 138 residues

REFERENCES
1.		Wong, C., Dowling, C.E., Saiki, R.K., Higuchi, R.G., Erlich, H.A., and Kazazian, H.H., Jr.: Nature, 330:384, 1987.

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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.