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Codon 127 (C->T); CAG(Gln)->TAG(stop codon)
Thu Sep 22, 2011 08:20
72.201.39.41

Codon 127 (C->T); CAG(Gln)->TAG(stop codon)

beta° (dominant, inclusion body, beta-thal trait)
MECHANISM This nonsense mutation results in the synthesis of a shorter beta chain (126 amino acids long) which is likely rapidly removed by proteolysis IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing; allele specific amplification HEMATOLOGY IN HETEROZYGOTE(S) The 18-year-old proband had a moderate anemia (Hb 9.0 g/dl) with MCV 77 fl and MCH 24 pg; Hb A2 4.2%; Hb F 4.0%; reticulocytes 8.0%; beta/alpha chain synthesis ratio 0.67; mother and sister, with the same mutation, are asymptomatic but have a hypochromic microcytic anemia
http://globin.cse.psu.edu/html/huisman/thals/beta/Codon.127.(C-@T)..CAG(Gln)-@TAG(stop.cod.html

The text of the paper reporting the mutation lists a CAA->TAA change, but Fig. 1 of that paper, showing the direct sequence, indicates a CAG->TAG mutation, as expected

REFERENCES
1. Hall, G.W., Franklin, I.M., Sura, T., and Thein, S.L.: Br. J. Haematol., 79:342, 1991.


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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.]]

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Identification of seven haplotypes of the caprine PrP gene at codons


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