Detection by PCR and Hphl Restriction Analysis of a Splice Site Mutation at the 5’ End of Intron 15 of the Platelet GPIIb (αIIb Integrin) Gene Responsible for Glanzmann’s Thrombasthenia Type I in Gypsies Originating from the Strasbourg Area

Corinne de la Salle; Agnès Schwartz; Marie-Jeanne Baas; Franyçis Lanza; Jean-Pierre Cazenave

doi:10.1055/s-0038-1649861

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1995; 74(03): 990-991
DOI: 10.1055/s-0038-1649861

Letter to the Editor

Schattauer GmbH Stuttgart

Detection by PCR and Hphl Restriction Analysis of a Splice Site Mutation at the 5’ End of Intron 15 of the Platelet GPIIb (α_IIb Integrin) Gene Responsible for Glanzmann’s Thrombasthenia Type I in Gypsies Originating from the Strasbourg Area

Authors

Corinne de la Salle

INSERM U. 311, Etablissement de Transfusion Sanguine, Strasbourg, France
Agnès Schwartz

INSERM U. 311, Etablissement de Transfusion Sanguine, Strasbourg, France
Marie-Jeanne Baas

INSERM U. 311, Etablissement de Transfusion Sanguine, Strasbourg, France
Franyçis Lanza

INSERM U. 311, Etablissement de Transfusion Sanguine, Strasbourg, France
Jean-Pierre Cazenave

INSERM U. 311, Etablissement de Transfusion Sanguine, Strasbourg, France

Abstract

PDF Download

PDF (174 kb)

References

References
1 Ginsberg MH, Xiaoping D, O’Toole TE, Loftus JC, Plow EF. Platelet integrins. Thromh Haemost 1993; 70: 87-93
2 Bray P. Inherited diseases of platelet glycoproteins: considerations for rapid molecular characterization. Thromh Haemost 1994; 72: 492-502
3 Gu J-M, Xu W-F, Wang X-D, Wu Q-Y, Chi C-W, Kuan CG. Identification of a nonsense mutation at amino acid 584-arginine of platelet glycoprotein lib in patients with type I Glanzmann thrombasthenia. Brit J Haematol 1993; 83: 442-449
4 Simsek S, Heyboer H, de Bruijne-Admiraal LG, Goldschmcding R, Cuijpers HT h M, von dem Borne AE G K r. Glanzmann’s thrombasthenia caused by homozygosity for a spliced delect that leads to deletion of the first coding exon of the glycoprotein Ilia mRNA. Blood 1993; 81: 2044-2049
5 Newman PJ, Seligsolm U, Lyman S, Coller BS. The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab population living in Israel. Proc Natl Acad Sci USA 1991; 88: 3160-3164
6 Levy JM, Mayer G, Sacrez R, Ruff R, Francfort J-J, Rodier L. Thrombaslhénie de Glanzmann-Naegeli. Etude d’un groupe ethnique it forte endogamic Ann Pediat 1971; 18: 381-389
7 Kunicki TJ, Pidard D, Cazenave J-P, Nurden AT, Caen J-P. Inheritance of the human platelet alloantigen. PL^AI, in type I Glanzmann’s thrombasthenia J Clin Invest 1981; 67: 717-724
8 Schlegel N, Gayet O, Morel-Kopp MC, Wyler B, Hurtaud-Roux MF, Kaplan C, Mac Gregor J. The molecular gentic basis of Glanzmann thrombasthenia (GT) in a Gypsy population in Prance. Identification of a new mutation o the <% gene Blood 1994; 84: 477 a
9 Ponez M, Eisman R, Heindenreich R, Silver SM, Vilaire G, Surrey S, Schwartz E, Bennett JS. Structure of the platelet membrane glycoprotein lib: homology to the <x subunit of the vitronectin and fibrinogen receptors. J Biol diem 1987; 262: 8476-8482
10 Heindenreich R, Eisman R, Surrey S, Delgrosso K, Bennett JS, Schwartz H, Ponez M. The organization of the gene for platelet glycoprotein lib. Biochemistry 1990; 29: 1232-1244