Molecular mechanism of β-thalassaemia caused by 22-bp duplication.

Autor:	Svasti, Saovaros, Boonchoy, Chanikarn, Vanichsetakul, Preeda, Winichagoon, Pranee, Fucharoen, Suthat
Předmět:	GENETICS of thalassemia GENETIC mutation INTRONS EXONS (Genetics) DNA insertion elements POLYMERASE chain reaction MESSENGER RNA
Zdroj:	Annals of Hematology; Aug2008, Vol. 87 Issue 8, p633-637, 5p, 2 Diagrams, 1 Graph
Abstrakt:	A β-thalassaemia mutation occurring from insertion of a duplicated 22-bp intron/exon junction of the β-globin gene has been characterised. The repeated 22-bp insertion causes duplication of a 3′ splice site at IVSI/exon 2 junction. Reverse transcription–polymerase chain reaction showed that the proximal 3′ splice site present in the duplicated gene is used, leading to a frameshift and a premature chain termination at codon 37. β-Globin messenger ribonucleic acid (mRNA) transcribed from the mutant gene was not detected, suggesting that the process of nonsense-mediated mRNA decay may be triggered by the premature stop codon. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu Full text from SpringerLink