title: Novel beta-thalassemia trait (IVS I-1 G-->C) in a Japanese family.
abstract: A rare beta-thalassemia mutation at the splicing junction [namely, G-->C in intervening sequence (IVS) I-1] was found in a Japanese family. The proband and his mother were heterozygous for the mutation. Analysis of mRNA extracted from the reticulocyte-rich fraction obtained from the proband's mother revealed that the mutant beta-globin gene did not produce any detectable, stable mRNA including exon 1 and exon 2, since the polymorphism in exon 1 on her mutant gene was not detected in the RT-PCR products.
authors.affiliation: Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Fujihara
authors.forename: Minoru
authors.initials: M
authors.lastname: Tozuka
authors.forename: Ichiro
authors.initials: I
authors.lastname: Ueno
authors.forename: Kazuyoshi
authors.initials: K
authors.lastname: Yamauchi
authors.forename: Ritsuko
authors.initials: R
authors.lastname: Nakagoshi
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Ishikawa
authors.forename: Masako
authors.initials: M
authors.lastname: Hirota
authors.forename: Nobuo
authors.initials: N
authors.lastname: Okumura
authors.forename: Eizaburo
authors.initials: E
authors.lastname: Ishii
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Katsuyama
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D012333:RNA, Messenger; D005914:Globins