|
|
 Previous Article | Table of Contents | Next Article 
Congenital plasminogen deficiency caused by a Ser572 to Pro mutation
H Azuma, Y Uno, T Shigekiyo and S Saito
First Department of Internal Medicine, School of Medicine, University of
Tokushima, Japan.
We used a polymerase chain reaction (PCR) strategy and restriction fragment
polymorphism analysis to evaluate all 19 exons of the plasminogen (PLG)
gene in a Japanese patient with congenital PLG deficiency and her family
members. She presented with cerebral infarction. Sequence analysis
following amplification of each exon and its flanking regions showed a
single T to C transition in exon 14, which changed a Ser572 codon (TCC) to
Pro572 codon (CCC). Since this mutation generates a new Fok I site, the Fok
I digestion pattern of the PCR-amplified exon 14 fragments from each family
member was analyzed. In all cases, the patterns were consistent with the
activities and antigen levels of plasma PLG in those members. Furthermore,
all PCR- amplified exon 14 fragments from 15 normal individuals were not
restricted with Fok I endonuclease. We conclude that a T to C transition in
exon 14 identified in the propositus is responsible for PLG deficiency
inherited in this Japanese family with thrombotic episodes.
Volume 82,
Issue 2,
pp. 475-480,
07/15/1993
Copyright © 1993 by The American Society of Hematology
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
J. M. Leyva-Castillo, H. Cavazos-Adame, A. Rojas-Martinez, M. C. Fernandez-Espinoza, and R. Ortiz-Lopez
Difficulties in Mutation Screening of the Plasminogen (PLG) Gene in Patients With Ligneous Conjunctivitis and Severe Hypoplasminogenemia Reply
Arch Ophthalmol,
September 1, 2007;
125(9):
1303 - 1303.
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. T. Sartori, G. Saggiorato, D. Pellati, F. Dal Bello, A. M. Lombardi, G. Opocher, L. Spiezia, and A. Girolami
Difficulties in the Mutation Analysis of Plasminogen Gene: A Study in Two Patients with Ligneous Conjunctivitis
Clinical and Applied Thrombosis/Hemostasis,
January 1, 2006;
12(1):
77 - 84.
[Abstract]
[PDF]
|
|
|
|
|
|
|
V. Schuster, S. Seidenspinner, P. Zeitler, C. Escher, U. Pleyer, W. Bernauer, E. R. Stiehm, S. Isenberg, S. Seregard, T. Olsson, et al.
Compound-Heterozygous Mutations in the Plasminogen Gene Predispose to the Development of Ligneous Conjunctivitis
Blood,
May 15, 1999;
93(10):
3457 - 3466.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
D. Schott, C.-E. Dempfle, P. Beck, A. Liermann, A. Mohr-Pennert, M. Goldner, P. Mehlem, H. Azuma, V. Schuster, A.-M. Mingers, et al.
Therapy with a Purified Plasminogen Concentrate in an Infant with Ligneous Conjunctivitis and Homozygous Plasminogen Deficiency
N. Engl. J. Med.,
December 3, 1998;
339(23):
1679 - 1686.
[Full Text]
[PDF]
|
|
|
|
|
|
|
V. Schuster, A.-M. Mingers, S. Seidenspinner, Z. Nussgens, T. Pukrop, and H. W. Kreth
Homozygous Mutations in the Plasminogen Gene of Two Unrelated Girls With Ligneous Conjunctivitis
Blood,
August 1, 1997;
90(3):
958 - 966.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
H. Azuma, N. Mima, M. Shirakawa, K. Miyamoto, H. Yamaguchi, T. Mitsui, T. Shigekiyo, and S. Saito
Molecular Pathogenesis of Type I Congenital Plasminogen Deficiency: Expression of Recombinant Human Mutant Plasminogens in Mammalian Cells
Blood,
January 1, 1997;
89(1):
183 - 190.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
V. A. Ploplis, P. Carmeliet, S. Vazirzadeh, I. Van Vlaenderen, L. Moons, E. F. Plow, and D. Collen
Effects of Disruption of The Plasminogen Gene on Thrombosis, Growth, and Health in Mice
Circulation,
November 1, 1995;
92(9):
2585 - 2593.
[Abstract]
[Full Text]
|
|
|
|
|
|
|
T H Bugge, M J Flick, C C Daugherty, and J L Degen
Plasminogen deficiency causes severe thrombosis but is compatible with development and reproduction.
Genes & Dev.,
April 1, 1995;
9(7):
794 - 807.
[Abstract]
[PDF]
|
|
|
|
|
