[Analysis of 994(G--> T) mutation in the plasma platelet-activating factor acetylhydrolase gene in the patients with cerebral infarction].
OBJECTIVE
To investigate the relationship between plasma platelet-activating factor acetylhydrolase (PAF-AH) gene 994(G--> T) mutation in exon 9 and the patients with cerebral infarction in Chinese Hans.


METHODS
The authors conducted a case-control study including 108 patients in three groups (atherosclerotic cerebral infarction group, lacunar infarction group and cerebral embolism group) and 215 normal subjects as controls. Genomic DNA was analyzed for the mutant allele by a specific polymerase chain reaction.


RESULTS
The frequency of the mutant genotype in the 102 patients with cerebral infarction was 35.19%(32.41% heterozygotes and 2.78% homozygotes), and was 38.10%(34.92% heterozygotes and 3.18% homozygotes) in the atherosclerotic cerebral infarction group, being all significantly higher than the control group's 20.46% (18.60% heterozygotes and 1.86% homozygotes)(P< 0.01); however, the frequencies of the mutant genotype in the lacunar infarction group and cerebral embolism group were 32.35% (29.41% heterozygotes and 2.94% homozygotes) and 27.27% (27.27% heterozygotes and 0 homozygotes) respectively, being not statistically different from those of the controls (P> 0.05).


CONCLUSIONS
These findings show that the 994(G--> T) mutation of plasma PAF-AH gene may be an independent risk for atherosclerotic cerebral infarction, but not for lacunar infarction.
Zhang
Xiong
X
Department of Neurology, Clinical Medicine College, Yangzhou University, Yangzhou, Jiangsu, 225001 PR China. xiongz715@sohu.com
Yuan
Cheng-lin
CL
Zhang
Heng-zhong
HZ
Xu
Jun
J
Wu
Jian
J
Chen
Bei-lei
BL
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002544:Cerebral Infarction / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase