title: Study of the RNA splicing defect in the common Chinese beta-thalassemia gene, IVS-II nt. 654 C-->T by using mRNA/PCR.
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.
authors.affiliation: Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, PRC.
authors.forename: S Z
authors.initials: SZ
authors.lastname: Huang
authors.forename: Z R
authors.initials: ZR
authors.lastname: Ren
authors.forename: Y T
authors.initials: YT
authors.lastname: Zeng
authors.forename: F Y
authors.initials: FY
authors.lastname: Zeng
authors.forename: G P
authors.initials: GP
authors.lastname: Rodgers
authors.forename: A N
authors.initials: AN
authors.lastname: Schecter
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D015870:Gene Expression; D005796:Genes; D005914:Globins / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012323:RNA Processing, Post-Transcriptional; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics* / Q000378:metabolism; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; D005914:Globins; D004247:DNA