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© Michaela Muller-Trutwin
HIV
Publication : Journal of thrombosis and haemostasis : JTH

Analysis of platelet membrane glycoprotein polymorphisms in Glanzmann thrombasthenia showed the French gypsy mutation in the alphaIIb gene to be strongly linked to the HPA-1b polymorphism in beta3

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Journal of thrombosis and haemostasis : JTH - 01 Mar 2003

Jacquelin B, Tuleja E, Kunicki TJ, Nurden P, Nurden AT

Link to Pubmed [PMID] – 12871468

J. Thromb. Haemost. 2003 Mar;1(3):573-5

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 beta3, 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 alphaIIb. Seven of these patients were homozygous for the HPA-1b alloantigen and the other two heterozygous HPA-1a/1b. As the alphaIIb and beta3 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 alpha2 gene, or in the Kozak or HPA-2 polymorphisms of GPIbalpha, suggesting that none of these alleles result in increased survival in Glanzmann thrombasthenia.

http://www.ncbi.nlm.nih.gov/pubmed/12871468