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 language | English (US) |
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Pages (from-to) | 1715-1716 |
Number of pages | 2 |
Journal | Haematologica |
Volume | 92 |
Issue number | 12 |
DOIs | |
State | Published - Dec 1 2007 |
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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 journal › Article
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TY - JOUR
T1 - 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
AU - Agarwal, Neeraj
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.
PY - 2007/12/1
Y1 - 2007/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=37049024105&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=37049024105&partnerID=8YFLogxK
U2 - 10.3324/haematol.11543
DO - 10.3324/haematol.11543
M3 - Article
C2 - 18056002
AN - SCOPUS:37049024105
VL - 92
SP - 1715
EP - 1716
JO - Haematologica
JF - Haematologica
SN - 0390-6078
IS - 12
ER -