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.

journal_name

Am J Hematol

authors

Fujihara N,Tozuka M,Ueno I,Yamauchi K,Nakagoshi R,Ishikawa S,Hirota M,Okumura N,Ishii E,Katsuyama T

doi

10.1002/ajh.10244

keywords:

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

64-6

issue

1

eissn

0361-8609

issn

1096-8652

journal_volume

72

pub_type

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