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Linkage of four polymorphisms on the α IIb gene
Author(s) -
Ruan,
Olivier Peyruchaud,
Nurden,
Bourre
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1998.00810.x
Subject(s) - genetics , linkage disequilibrium , gene , biology , genetic linkage , intron , glanzmann's thrombasthenia , platelet disorder , chromosome , thrombasthenia , platelet , haplotype , immunology , allele , platelet aggregation
The subunits of the platelet integrin α IIb β 3 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 α IIb 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 α IIb gene pathology and evolution.