title: 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.
abstract: 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.
authors.affiliation: UMR 5533 CNRS, Hôpital Cardiologique, Pessac, France.
authors.forename: B
authors.initials: B
authors.lastname: Jacquelin
authors.forename: E
authors.initials: E
authors.lastname: Tuleja
authors.forename: T J
authors.initials: TJ
authors.lastname: Kunicki
authors.forename: P
authors.initials: P
authors.lastname: Nurden
authors.forename: A T
authors.initials: AT
authors.lastname: Nurden
mesh_terms: D019943:Amino Acid Substitution; D016824:Antigens, Human Platelet / Q000235:genetics; D008040:Genetic Linkage; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D039661:Integrin beta3 / Q000235:genetics; D015810:Linkage Disequilibrium; D020125:Mutation, Missense; D040201:Platelet Membrane Glycoprotein IIb / Q000235:genetics; D010980:Platelet Membrane Glycoproteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D013915:Thrombasthenia / Q000097:blood / Q000235:genetics*
chemical_list: D016824:Antigens, Human Platelet; D039661:Integrin beta3; D040201:Platelet Membrane Glycoprotein IIb; D010980:Platelet Membrane Glycoproteins; C083451:human platelet antigen 1b