Linkage of four polymorphisms on the alphaIIb gene.
The subunits of the platelet integrin alphaIIb beta3 are encoded by two genes located on chromosome 17. Two pathologies are associated with structural modifications of this complex: Glanzmann's thrombasthenia and alloimmune thrombocytopenia. The former is a hereditary bleeding disorder, the latter is due to an immune response linked to the presence of specific epitopes defined by single amino acid substitutions called human platelet alloantigen (HPA) systems. Analysing the alphaIIb gene from 112 independent chromosomes, we have defined two new silent polymorphisms in complete linkage disequilibrium. They are reciprocally linked to HPA-3 and a previously reported 9 pb deletion in intron 21. Linkage of these four DNA markers spanning a 5 kb fragment of genomic DNA provides a new tool for analysing alphaIIb gene pathology and evolution.
Ruan
J
J
UMR 5533 CNRS, Hôpital Cardiologique, Pessac, France.
Peyruchaud
O
O
Nurden
A
A
Bourre
F
F
D008040:Genetic Linkage; D006801:Humans; D007438:Introns / Q000235:genetics; D019039:Platelet Glycoprotein GPIIb-IIIa Complex / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D013915:Thrombasthenia / Q000235:genetics*
D019039:Platelet Glycoprotein GPIIb-IIIa Complex