Linked Life Data

21732929

Source:http://linkedlifedata.com/resource/pubmed/id/21732929

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2011-8-12
pubmed:abstractText
Thalassaemia is characterized by the reduced or absent production of globins in the haemoglobin molecule leading to imbalanced ?-globin/non ?-globin chains. HbE, the result of a G to A mutation in codon 26 of the HBB (?-globin) gene, activates a cryptic 5' splice site in codon 25 leading to a reduction of correctly spliced ?(E) -globin (HBB:c.79G>A) mRNA and consequently ?(+) -thalassaemia. A wide range of clinical severities in both?- and ?-thalassaemia syndromes, from nearly asymptomatic to transfusion-dependent, has been observed. The correlation between clinical heterogeneity in various genotypes of thalassaemia and the levels of globin gene expression and ?(E) -globin pre-mRNA splicing were examined using multiplex quantitative real-time reverse transcription polymerase chain reaction (RT-qPCR) and allele-specific RT-qPCR. The ?-globin/non ?-globin mRNA ratio was demonstrated to be a good indicator for disease severity among different thalassaemia disorders. However, the ?-globin/non ?-globin mRNA ratio ranged widely in ?-thalassaemia/HbE patients, with no significant difference between mild and severe phenotypes. Interestingly, the correctly to aberrantly spliced ?(E) -globin mRNA ratio in 30% of mild ?-thalassaemia/HbE patients was higher than that of the severe patients. The splicing process of ?(E) -globin pre-mRNA differs among ?-thalassaemia/HbE patients and serves as one of the modifying factors for disease severity.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1365-2141
pubmed:author
pubmed:copyrightInfo
© 2011 Blackwell Publishing Ltd.
pubmed:issnType
Electronic
pubmed:volume
154
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
635-43
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Molecular analysis of globin gene expression in different thalassaemia disorders: individual variation of ?(E) pre-mRNA splicing determine disease severity.
pubmed:affiliation
Thalassemia Research Centre, Institute of Molecular Biosciences, Mahidol University, Nakornpathom, Thailand.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't