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

被引：11

作者：

Agarwal, Neeraj ^{[1
]}

Kutlar, Ferdane ^{[2
]}

Mojica-Henshaw, Mariluz P. ^{[1
]}

Ou, Ching N. ^{[3
]}

Gaikwad, Amos ^{[3
]}

Reading, N. Scott ^{[4
]}

Bailey, Lakeia ^{[2
]}

Kutlar, Abdullah ^{[2
]}

Prchal, Josef T. ^{[1
,4
]}

机构：

[1] Univ Utah, Sch Med, Hematol Div, Salt Lake City, UT USA

[2] Med Coll Georgia, Hematol Div, Augusta, GA 30912 USA

[3] Baylor Coll Med, Pedia Hematol Oncol, Houston, TX USA

[4] ARUP Labs, Salt Lake City, UT USA

来源：

HAEMATOLOGICA | 2007年 / 92卷 / 12期

关键词：

D O I：

10.3324/haematol.11543

中图分类号：

R5 [内科学];

学科分类号：

1002 [临床医学]; 100201 [内科学];

摘要：

Hemoglobin Monroe (beta 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 beta 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.

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页码：1715 / 1716

页数：2

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