The purpose of this article is to review the molecular genetics of hum
an platelet antigens, the application of molecular biological techniqu
es to detect mutations underlying polymorphisms and the importance of
these techniques for clinical medicine of immune-mediated platelet des
truction. Review articles, original papers and preliminary (unpublishe
d) observations from our own laboratory are the main source for this a
rticle. The nomenclature and phenotype frequency of the platelet alloa
ntigens in different ethnic groups are described. Recent molecular bio
logical advances are also reviewed. It appears that the human platelet
antigen systems are due to single base pair substitutions. These muta
tions create or are responsible for the loss of a target site for a re
striction enzyme in one of the alleles. Thus, DNA typing by polymerase
chain reaction and subsequently allele-specific restriction enzyme an
alysis (PCR-ASRA) can be performed.