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

Haematologica. 2007 Dec;92(12):1715-6. doi: 10.3324/haematol.11543.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alleles*
  • Exons / genetics*
  • Female
  • Gene Expression Regulation / genetics*
  • Hemoglobins, Abnormal / biosynthesis
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Mutation, Missense*
  • Peptides / genetics
  • RNA, Messenger / biosynthesis
  • RNA, Messenger / genetics
  • Transcription, Genetic / genetics

Substances

  • Hemoglobins, Abnormal
  • Peptides
  • RNA, Messenger
  • hemoglobin Monroe