MUTATION IVS-I-116 (T->G)
 
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°; normal mRNA estimated at less than 1.0%
MECHANISM See scheme below 
                                         g Leu Leu Val  
Normal      attggtctatt ttc cca ccc tta gG·CTG·CTG·GTG·G
                                         ^              
                      g Phe Pro Pro Leu Gly Cys Trp Trp 
IVS-I-116   attggtctagT·TTC·CCA·CCC·TTA·GGC·TGC·TGG·TGG 
                     ^                   ^
IDENTIFICATION Cloning of the beta-globin gene; sequencing; the mutation creates an MaeI site which can be used for identifica-tion
HEMATOLOGY IN HETEROZYGOTE(S) Not reported
HEMATOLOGY IN HOMOZYGOTE(S) None
OCCURRENCE In a Greek family; in combination with the Greek type of nondeletional HPFH
HAPLOTYPE Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Not reported
OTHER INFORMATION In vitro expression experiments showed only abnormally spliced mRNA in contrast with the IVS-I-110 (G->A) mutation where about 80% of the mRNA is abnormally spliced
       
REFERENCES
1. Metherall, J.E., Collins, F.S., Pan, J., Weissman, S.M., and Forget, B.G.: EMBO J., 5:2551, 1986.

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.