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

• 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