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Novel β‐thalassemia trait (IVS I‐1 G→C) in a Japanese family
Author(s) -
Fujihara Noriko,
Tozuka Minoru,
Ueno Ichiro,
Yamauchi Kazuyoshi,
Nakagoshi Ritsuko,
Ishikawa Shinsuke,
Hirota Masako,
Okumura Nobuo,
Ishii Eizaburo,
Katsuyama Tsutomu
Publication year - 2003
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.10244
Subject(s) - exon , proband , genetics , microbiology and biotechnology , mutant , biology , thalassemia , mutation , rna splicing , globin , reticulocyte , gene , messenger rna , rna
A rare β‐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 β‐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. Am. J. Hematol. 72:64–66, 2003. © 2002 Wiley‐Liss, Inc.