Analysis of platelet glycoprotein Ia (alpha2 integrin) allele frequencies in three North American populations reveals genetic association between nucleotide 807C/T and amino acid 505 Glu/Lys (HPA-5) dimorphisms.
Glycoprotein Ia (alpha2 integrin) is a subunit of the heterodimeric membrane complex (GPIa/IIa) that mediates platelet adhesion to collagen. Several nucleotide sequence variations of GPIa have been described. A nucleotide 1648 G/A dimorphism that leads to a Glu/Lys substitution at amino acid 505 is responsible for the human platelet antigen system, HPA-5. Recently, two other linked GPIa nucleotide dimorphisms involving codons Phe224 and Thr246 were identified: a C/T substitution at nucleotide 807 and a G/A substitution at nucleotide 873(1). Using restriction enzyme digestion of amplified GPIa genomic DNA fragments (PCR-RFLP) to distinguish genotypes, we have determined the allele frequencies of the GPIa 807C/T and Glu/Lys505 dimorphisms in three North American populations, and a panel of non-human primates. Our results indicate a genetic relationship between the 807C/T and Glu/Lys505 dimorphisms that leads to an evolutionary model of GPIa isoforms.
Reiner
A P
AP
Puget Sound Blood Center and Department of Medicine, Universisty of Washington, Seattle 98104-1256, USA.
Aramaki
K M
KM
Teramura
G
G
Gaur
L
L
D000483:Alleles; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D015703:Antigens, CD / Q000235:genetics*; D001483:Base Sequence; D001792:Blood Platelets / Q000502:physiology; D005787:Gene Frequency; D005973:Glutamine; D006801:Humans; D039421:Integrin alpha2; D008239:Lysine; D008969:Molecular Sequence Data; D009656:North America; D010973:Platelet Adhesiveness / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D044469:Racial Groups
D015703:Antigens, CD; D039421:Integrin alpha2; D005973:Glutamine; D008239:Lysine