Codons.126-131.(Val-Gln-Ala-Ala-Thr-Gln).html


MUTATION		*Codons 126-131 (Val-Gln-Ala-Ala-Thr-Gln) (-17 bp); GTG·CAG·GCT·GCC·TAT·CAG->G*

AMINO ACID REPLACEMENT		Deletion
TYPE OF BETA-THAL		beta°
MECHANISM		Formation of an abnormal beta-mRNA with a stop codon at the new codon 133 (TAA)
IDENTIFICATION		Amplification of the beta-globin gene; ARMS; DGGE; sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not given
HEMATOLOGY IN HOMOZYGOTE(S)		Not given
OCCURRENCE		Found in a Pathan patient from Pakistan; the proband is a homozygote; the parents who are related are both heterozygotes
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		The deletion is quoted in the paper as :
		-TG·CAG·CCT·GCC·TAT·CAG- 126 127 128 129 130 131
		Codon 128 should read GCT (=Ala) not CCT (=Pro)


REFERENCES
1.		Ahmed, S., Petrou, M., and Saleem, M.: Br. J. Haematol., 94:476, 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.