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

Research output: Contribution to journalArticle

9 Citations (Scopus)

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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Globins
Missense Mutation
Exons
Nucleotides
Alleles
Erythroid Precursor Cells
Peptides
Reticulocytes
Codon
Haplotypes
Genes
Gene Expression
Messenger RNA
Mutation
hemoglobin Monroe

ASJC Scopus subject areas

  • Hematology

Cite this

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

In: Haematologica, Vol. 92, No. 12, 01.12.2007, p. 1715-1716.

Research output: Contribution to journalArticle

Agarwal, Neeraj ; Kutlar, Ferdane ; Mojica-Henshaw, Mariluz P. ; Ou, Ching N. ; Gaikwad, Amos ; Reading, N. Scott ; Bailey, Lakeia ; Kutlar, Abdullah ; Prchal, Josef 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. In: Haematologica. 2007 ; Vol. 92, No. 12. pp. 1715-1716.
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AU - Kutlar, Ferdane

AU - Mojica-Henshaw, Mariluz P.

AU - Ou, Ching N.

AU - Gaikwad, Amos

AU - Reading, N. Scott

AU - Bailey, Lakeia

AU - Kutlar, Abdullah

AU - Prchal, Josef T.

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