Evidence for the existence of the PAF acetylhydrolase mutation (Va1279Phe)in non-Japanese populations: A preliminary study in Turkey, Azerbaijan, and Kyrgyzstan

Deficiency of plasma platelet-activating factor (PAF) acetylhydrolase resul ting from a missense mutation (Va1279Phe) in exon 9 of the gene has been de scribed exclusively in the Japanese population with a very high frequency. This study describes the distribution of the mutation in Turkey and two oth er Turkic nations, Kyrgyzstan in central Asia and Azerbaijan bordering the Caspian Sea. Among 358 unrelated healthy subjects studied from Turkish popu lation, only 3 had the mutation in heterozygous state (0.84%). Family studi es also revealed the presence of homozygous individuals in close relatives of one of these subjects. Among 143 healthy subjects studied from Kyrgyzsta n, 12 were heterozygous for the mutation (8.4%). No mutation was detected a mong 100 healthy individuals studied from Azerbaijan. However, it was sugge sted that the number of subjects was not enough to draw any conclusion abou t the prevalence of the mutation in the populations studied. Contrary to th e previous notions, identification of the mutation in Turkey and Kyrgyzstan shows the existence of the mutation in non-Japanese populations as well. ( C) 2001 Elsevier Science Ltd. All rights reserved.