HOME HELP FEEDBACK TABLE OF CONTENTS ARCHIVE SUBSCRIPTIONS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Agarwal et al. Design and Methods Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Agarwal, N. Articles by Prchal, J. T. Search for Related Content PubMed PubMed Citation Articles by Agarwal, N. Articles by Prchal, J. T.

Missense mutation of the last nucleotide of exon 1 (G->C) of β globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele

^* Hematology Division, University of Utah School of Medicine, Salt Lake City, UT;
^° Hematology Division, Medical College of Georgia, Augusta, GA, USA;
^# Pediatric-Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA;
^@ ARUP Laboratories, Salt Lake City, UT, USA

Correspondence: Josef T. Prchal, University of Utah, Hematology Division, 30 North 1900 East, Utah 4C416, Salt Lake City, USA. E-mail: josef.prchal{at}hsc.utah.edu

Hemoglobin Monroe (β globin G->C, codon 30) is a missense mutation. We could not detect either the mutant peptide or transcript in reticulocyte-enriched preparation and in expanded erythroid progenitor cells. By quantitative gene expression assay β globin mRNA was found to be reduced by more than 70% in all heterozygous subjects with different haplotypes. We conclude that this mutation also interferes with expression of wild type allele.