Evidence for the existence of the PAF acetylhydrolase mutation (Val279Phe) in non-Japanese populations: a preliminary study in Turkey, Azerbaijan, and Kyrgyzstan.
Deficiency of plasma platelet-activating factor (PAF) acetylhydrolase resulting from a missense mutation (Val279Phe) in exon 9 of the gene has been described exclusively in the Japanese population with a very high frequency. This study describes the distribution of the mutation in Turkey and two other Turkic nations, Kyrgyzstan in central Asia and Azerbaijan bordering the Caspian Sea. Among 358 unrelated healthy subjects studied from Turkish population, only 3 had the mutation in heterozygous state (0.84%). Family studies also revealed the presence of homozygous individuals in close relatives of one of these subjects. Among 143 healthy subjects studied from Kyrgyzstan, 12 were heterozygous for the mutation (8.4%). No mutation was detected among 100 healthy individuals studied from Azerbaijan. However, it was suggested that the number of subjects was not enough to draw any conclusion about the prevalence of the mutation in the populations studied. Contrary to the previous notions, identification of the mutation in Turkey and Kyrgyzstan shows the existence of the mutation in non-Japanese populations as well.
Pediatric Hematology Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, 06100, Ankara, Turkey. gbalta@gen.hun.edu.tr
G
G
Balta
A
A
Gurgey
D K
DK
Kudayarov
B
B
Tunc
C
C
Altay
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D000293:Adolescent; D001382:Azerbaijan; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007564:Japan; D007707:Kyrgyzstan; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010741:Phospholipases A / Q000172:deficiency* / Q000235:genetics*; D014421:Turkey
D010741:Phospholipases A; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase