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目的 探讨血小板活化因子乙酰水解酶 (PAF AH)基因多态性与儿童哮喘严重程度的关系。方法 采用等位基因特异性聚合酶链式反应 (AS PCR)技术 ,检测 131例不同严重程度的哮喘患儿及 10 4例健康儿童PAF AH基因第 9外显子Val 2 79Phe基因多态性。结果 轻、中度哮喘组与对照组 3种基因型 (Val 2 79Val、Val 2 79Phe、Phe 2 79Phe)在分布频率上差异无显著性 (P >0 0 5 ) ,但重度哮喘患儿与轻、中度哮喘组及对照组相比 ,差异显著 (P 均 <0 0 5 ) ;Phe等位基因频率重度哮喘组与轻、中度哮喘组及对照组相比差异显著 (P 均 <0 0 5 )。结论 PAF AH基因 (Val 2 79Phe)突变可能为重度哮喘儿童的易感基因之一。
Objective To investigate the relationship between the polymorphism of platelet activating factor acetylhydrolase (PAF AH) gene and the severity of childhood asthma. Methods Allele-specific polymerase chain reaction (AS PCR) was used to detect the polymorphism of VaI 79Phe in exon 9 of PAF AH gene in 131 children with asthma of different severity and 104 healthy children. Results There were no significant differences in the distribution frequency of three genotypes (Val 2 79 Val, Val 2 79 Phe and Phe 2 79 Phe) between mild and moderate asthma group and control group (P 0 05) , Moderate asthma group and control group, the difference was significant (P <0.05); Phe allele frequency of severe asthma group was significantly lower than mild and moderate asthma group and control group (P <0 0) 5). Conclusion The mutation of PAF AH gene (Val 2 79 Phe) may be one of the susceptible genes in children with severe asthma.