Study of the RNA splicing defect in the common Chinese beta-thalassemia gene, IVS-II nt. 654 C-->T by using mRNA/PCR.
Sci China B
; 35(10): 1232-7, 1992 Oct.
Article
em En
| MEDLINE
| ID: mdl-1285849
ABSTRACT
With direct sequencing of the amplified cDNA, we analysed the transcript and mRNA splicing defect in a common Chinese beta-thalassemia mutant (IVS-II nt. 654 C-->T). The result shows that this mutant gene would not only produce abnormally processed beta-globin mRNA, but also transcribes a small amount of normally spliced mRNA, hence leading to beta+ thalassemia. The method described herein provides a simple and sensitive approach to the studies of gene expression and molecular defects in genetic diseases at transcriptional level.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
RNA Mensageiro
/
Splicing de RNA
/
Talassemia beta
/
Genes
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Sci China B
Assunto da revista:
BIOLOGIA
/
CIENCIA
/
QUIMICA
Ano de publicação:
1992
Tipo de documento:
Article