The beta-globin C-->G mutation at 6 bp 3' to the termination codon causes beta-thalassaemia by decreasing the mRNA level.

doi:10.1046/j.1365-2141.2002.03627.x

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Article

The beta-globin C-->G mutation at 6 bp 3' to the termination codon causes beta-thalassaemia by decreasing the mRNA level.

British journal of haematology - 1 Aug 2002

Sgourou Argyro, Papachatzopoulou Adamandia, Psiouri Lambrini, Antoniou Michael, Zoumbos Nicholas, Gibbs Richard, Athanassiadou Aglaia

Abstract excerpt

We have studied the expression of the silent beta-thalassaemia term+6 (C-->G) mutation, at nucleotide 6 after the stop codon within the human beta-globin 3' untranslated regions (3'UTR), by stable transfection in murine erythroleukaemia (MEL) cells. Steady state mRNA levels from transfected MEL cells containing the term+6 mutant allele were reduced by 52-60%, compared with those obtained from the normal...

Topics

Child
Codon, Terminator
Globins
Humans
Male
Mutation
RNA, Messenger
Transfection
beta-Thalassemia

Source

Open in PubMed

Identifiers

PMID: 12139763
DOI: 10.1046/j.1365-2141.2002.03627.x

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