Molecular mechanism of beta-thalassaemia caused by 22-bp duplication.
A beta-thalassaemia mutation occurring from insertion of a duplicated 22-bp intron/exon junction of the beta-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. beta-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.
Svasti
Saovaros
S
Thalassaemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Salaya Campus, Phuttamonthon, Nakornpathom, Thailand.
Boonchoy
Chanikarn
C
Vanichsetakul
Preeda
P
Winichagoon
Pranee
P
Fucharoen
Suthat
S
D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D020440:Gene Duplication; D005914:Globins / Q000235:genetics*; D006801:Humans; D022821:RNA Splice Sites / Q000235:genetics; D012333:RNA, Messenger / Q000378:metabolism; D017086:beta-Thalassemia / Q000235:genetics* / Q000503:physiopathology
D018389:Codon, Nonsense; D022821:RNA Splice Sites; D012333:RNA, Messenger; D005914:Globins