-114.(C-@T).Ggamma,.the.Japanese.nd-HPFH.html


MUTATION		-114 (C->T) ^Ggamma; the Japanese nd-HPFH

IDENTIFICATION		Amplification; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Normal: Hb F 11.0; 14.0%; ^Ggamma 92.0; 86.0%;Hb A₂ not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a Japanese family
HAPLOTYPE		[- + + - + + + +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not observed
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None; the proband is homozygous for the C->T mutation at -158 (^Ggamma)
MECHANISM		Retardation assays have shown that the CPI ubiquitous factor is not bound by the mutated segment, while the binding of an erythroid specific factor is not affected


REFERENCES
1.		Fucharoen, S., Shimizu, K., and Fukumaki, Y.: Nucleic Acids Res., 18:5245, 1990.

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.