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

Neeraj Agarwal, Ferdane Kutlar, Mariluz P. Mojica-Henshaw, Ching N. Ou, Amos Gaikwad, N. Scott Reading, Lakeia Bailey, Abdullah Kutlar, Josef T. Prchal

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)1715-1716
Number of pages2
JournalHaematologica
Volume92
Issue number12
DOIs
StatePublished - Dec 1 2007

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ASJC Scopus subject areas

  • Hematology

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