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001-es BibID:	BIBFORM058218
Első szerző:	Losonczy Gergely (szemész)
Cím:	A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa / Gergely Losonczy, Nurit Rosenberg, Csongor Kiss, János Kappelmayer, György Vereb, Adrienne Kerényi, István Balogh, László Muszbek
Dátum:	2005
ISSN:	0340-6245
Megjegyzések:	The absence of agonist-induced platelet aggregation and the lack of fibrinogen receptor (GPIIb/IIIa) on the platelet surface demonstrated that the severe hemorrhagic complications of a child of Romany descent were caused by Glanzmann thrombasthenia. DNA sequencing revealed a novel homozygous deletion of a cytosine (1619delC) in the GPIIb gene causing a frameshift and predicting a novel stop codon at position 533 following 24 altered amino acids. Both parents possessed the same deletion in heterozygous form. The amount of GPIIb mRNA in the patient's platelets was 0.06% of the amount measured in control platelets. Neither GPIIb nor its truncated form could be detected in the platelets of the patient by Western blotting, while a small amount of GPIIIa was demonstrated. Quantitative flowcytometric analysis showed an elevated number of vitronectin receptors, a component of which is GPIIIa, on the patient's platelets. The surface expression of vitronectin receptor on thrombasthenic, but not on normal platelets was further increased by activation with thrombin receptor agonist peptide. BHK cells transfected with wild type GPIIIa andmutated GPIIb failed to express any mature GPIIb or pro-GPIIb. Immunoprecipitation with a polyclonal antibody recognizing both GPIIb and GPIIIa recovered a 60 kDa truncated form of GPIIb. This band was absent when immunoprecipitation was carried out with an antibody recognizing GPIIIa, suggesting that the truncated protein, lacking calf-1, calf-2 domains and major part of the thigh domain, is unable to form complex with GPIIIa.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Amino Acids analysis Animals Antibodies biosynthesis Blood Platelets Blotting, Western Case Report Cell Line Cells chemistry Child Cricetinae Cytosine Dna Electrophoresis, Polyacrylamide Gel Exons Family Health Female Flow Cytometry Gene Deletion genetics Homozygote Humans Hungary Immunoprecipitation Integrin alphaVbeta3 Integrin beta3 Male metabolism Mutagenesis, Site-Directed Mutation Platelet Aggregation Platelet Glycoprotein GPIIb-IIIa Complex Platelet Membrane Glycoprotein IIb Polymerase Chain Reaction Protein Binding Protein Structure, Tertiary Research RNA, Messenger Sequence Analysis, DNA Support Thrombasthenia Thrombin Transfection
Megjelenés:	Thrombosis and Haemostasis. - 93 : 5 (2005), p. 904-909. -
További szerzők:	Rosenberg, Nurit Kiss Csongor (1956-) (hematológus, onkológus) Kappelmayer János (1960-) (laboratóriumi szakorvos) Vereb György (1965-) (biofizikus, orvos) Kerényi Adrienne (1970-) (laboratóriumi szakorvos) Balogh István (1972-) (molekuláris biológus, genetikus) Muszbek László (1942-) (haematológus, kutató orvos)
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