Novel beta-thalassemia trait (IVS I-1 G-->C) in a Japanese family.
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.
Fujihara
Noriko
N
Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Japan.
Tozuka
Minoru
M
Ueno
Ichiro
I
Yamauchi
Kazuyoshi
K
Nakagoshi
Ritsuko
R
Ishikawa
Shinsuke
S
Hirota
Masako
M
Okumura
Nobuo
N
Ishii
Eizaburo
E
Katsuyama
Tsutomu
T
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*
D022821:RNA Splice Sites; D012333:RNA, Messenger; D005914:Globins