VI-a.   The Nondeletional Alpha-Thalassemia Alleles

Initiation codon (A->G); ATG->GTG of an alpha2alpha1 hybrid gene -alpha(-3.7 kb)
Initiation codon (two nts in 5' deleted);
Initiation codon (T->C); ATG->ACG of the alpha2 gene
Initiation codon (-T); ATG->A-G of the alpha2 gene
Initiation codon (A->G); ATG->GTG of the alpha1 gene
T->A at codon 14; TGG->AGG on an alpha-thal-2 chromosome [-alpha(Ev)]
CTG->CCG at codon 29 of the alpha2 gene
Codons 30/31 (GAG·AGG->GAG·- -G) on an alpha-thal-2 globin gene [-alpha(T)]
IVS-I donor site (GAG·GTG·AGG->GAG·G- - - - -); alpha2-globin gene; also known as alpha-thal-2 (-5nt)
IVS-I-116 (A->G) alpha2 gene;
IVS-I-117 (G->A) alpha1 gene;
Codons 38/39 [-ACC (Thr)]; deleted from the alpha1-globin gene
Deletion of 13 nts from codons 51-55 of the alpha1 gene;
G->A at codon 59 of the alpha1 gene; GGC->GAC
G->A at codon 104 of the alpha2 gene; TGC->TAC
T->G at codon 109 of the alpha2 gene; CTG->CGG
C->A at codon 110; alpha2 or alpha1 gene; GCC->GAC
Deletion of 12 nts from codons 112-116 of the alpha2 gene;
G->T at codon 116 of the alpha2 gene; GAG->TAG
T->C at codon 125 of the alpha2 gene; CTG->CCG
T->C at codon 129 of the alpha2 gene; CTG->CCG
G->C at codon 130 of the alpha2 gene; GCT->CCT
T->C at codon 131 of the alpha2 gene; TCT->CCT
TAA->CAA at codon 142 of the alpha2 gene
TAA->TCA at codon 142 of the alpha2 gene
TAA->AAA at codon 142 of the alpha2 gene
TAA->GAA at codon 142 of the alpha2 gene
TAA->TAT at codon 142 of the alpha2 gene
AATAAA->AATAAG of the alpha2 gene (poly A signal)
AATAAA->AATGAA of the alpha2 gene (poly A signal)
AATAAA->AATA-- of the alpha2 gene (poly A signal)
3'UTR (-16 bp) alpha2 gene


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.