Characterization of the cDNA and genomic DNA sequence encoding for the platelet integrin alpha IIB and beta III in a horse with Glanzmann thrombasthenia.
Glanzmann thrombasthenia (GT) is characterized by a defect of platelet aggregation. This autosomal recessive genetic disorder is caused by an abnormality of the platelet glycoprotein receptors alpha IIb or beta III. Recently, we identified a horse with clinical and pathological features of GT. The aim of this study was to describe this case of GT at the molecular level. A point mutation from G to C in exon 2 of ITGA2B causing a substitution of the expected amino acid arginine 72 (Arg(72)) by a proline (Pro(72)) was encountered. This amino acid change may result in abnormal structural conformations that yield an inactive alpha IIb subunit. The genomic DNA analysis showed that this horse was homozygous for the missense mutation.
Department of Clinical Sciences, Faculty of Veterinary Medicine, Université de Montréal, Saint-Hyacinthe, Quebec.
Susana
S
Macieira
Jacques
J
Lussier
Christian
C
Bédard
D000818:Animals; D001483:Base Sequence; D018076:DNA, Complementary / Q000032:analysis / Q000235:genetics; D005260:Female; D006720:Homozygote; D006734:Horse Diseases / Q000235:genetics*; D006736:Horses; D039661:Integrin beta3 / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D040201:Platelet Membrane Glycoprotein IIb / Q000235:genetics*; D017354:Point Mutation; D017422:Sequence Analysis, DNA / Q000662:veterinary; D013915:Thrombasthenia / Q000235:genetics / Q000662:veterinary*
D018076:DNA, Complementary; D039661:Integrin beta3; D040201:Platelet Membrane Glycoprotein IIb