血小板活化因子乙酰水解酶基因多态性与早产儿颅内出血的关联性

目的：本研究从基因水平探讨血小板活化因子乙酰水解酶（PAF-AH）基因第9外显子Val279Phe单核苷酸多态性与早产儿颅内出血是否具有关联性，为有效预防颅内出血的发生提供理论依据。方法：选取颅内出血早产儿58例作为出血组，无颅内出血早产儿65例作为对照组，应用聚合酶链式反应（PCR）检测PAF-AH第9外显子Val279Phe单核苷酸多态性位点的基因型及等位基因的分布情况，进行病例对照研究分析。结果：出血组和对照组PAF-AH第9外显子Val279Phe基因型分布频率差异有统计学意义（P＜0.05），其中出血组正常基因型频率（63.8%）明显低于对照组（81.5%）；出血组突变杂合子基因型（34.5%）明显高于对照组（16.9%）。两组PAF-AH等位基因分布频率差异亦有统计学意义（P＜0.05），其中出血组T 等位基因频率（19.0%）明显高于对照组（10.0%）。结论：PAF-AH第9外显子Val279Phe的单核苷酸基因多态性与早产儿颅内出血有关。

Association between platelet-activating factor acetylhydrolase gene polymorphism and intracranial hemorrhage in preterm infants

Objective To explore whether Val279Phe single nucleotide polymorphisms(SNPs) in the 9th exon of platelet-activating factor acetylhydrolase(PAF-AH) are associated with intracranial hemorrhage in preterm infants. Methods A case-control study was performed.Polymerase chain reaction(PCR) was used to test genotype and allele frequencies of the 9th exon Val279Phe SNPs of PAF-AH in 58 preterm infants with intracranial hemorrhage(hemorrhage group) and 65 preterm infants without intracranial hemorrhage(control group). Results There were significant differences in genotype frequency of Val279Phe SNPs in the 9th exon of PAF-AH between the hemorrhage and control groups(P<0.05).Frequency of normal genotype in the hemorrhage group(63.8%) was significantly lower than in the control group(81.5%).In contrast,frequency of heterozygous genotype(34.5%) in the hemorrhage group was significantly higher than in control group(16.9%).There were also significant differences in allele frequency of Val279Phe SNPs in the 9th exon of PAF-AH between the two groups(P<0.05).T allele frequency in the hemorrhage group(19.0%) was significantly higher than in the control group(10.0%). Conclusions Val279Phe SNPs in the 9th exon of PAF-AH may be associated with intracranial hemorrhage in preterm infants.