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Analysis of platelet membrane glycoprotein polymorphisms in Glanzmann thrombasthenia showed the French gypsy mutation in the αIIb gene to be strongly linked to the HPA‐1b polymorphism in β3
Author(s) -
Jacquelin B.,
Tuleja E.,
Kunicki T. J.,
Nurden P.,
Nurden A. T.
Publication year - 2003
Publication title -
journal of thrombosis and haemostasis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.947
H-Index - 178
eISSN - 1538-7836
pISSN - 1538-7933
DOI - 10.1046/j.1538-7836.2003.00107.x
Subject(s) - allele , platelet membrane glycoprotein , thrombasthenia , genetics , population , biology , glanzmann's thrombasthenia , mutation , platelet glycoprotein gpiib iiia complex , gene , platelet , glycoprotein , microbiology and biotechnology , immunology , medicine , platelet activation , platelet aggregation , environmental health
Summary. We have tested the DNA of a large series of Glanzmann thrombasthenia patients for polymorphisms in platelet membrane glycoproteins. To our surprise, we noted a high prevalence of the HPA‐1b allele of β3, the minority allele in a normal population. This proved to be due to the presence of nine patients homozygous for the so‐called French gypsy mutation (IVS15[ + 1]G→A) in αIIb. Seven of these patients were homozygous for the HPA‐1b alloantigen and the other two heterozygous HPA‐1a/1b. As the αIIb and β3 genes are both on chromosome 17, it is highly probable that the French gypsy mutation first arose on a chromosome encoding HPA‐1b. For other adhesion receptors, no major differences were seen in the distribution of the A1, A2 and A3 alleles in the α2 gene, or in the Kozak or HPA‐2 polymorphisms of GPIbα, suggesting that none of these alleles result in increased survival in Glanzmann thrombasthenia.