Abstract:

To investigate the association between single-nucleotide polymorphisms（SNP） in the pulmonary surfactant protein A1 gene and bronchopulmonary dysplasia in neonates. Methods　From Jul.2008 to Dec.2010 in Tongji Hospital，Tongji Medical College， 38 infants with BPD and 55 normal subjects as control were studied and genetype analysis was determined with the polymerase chain reaction restriction fragment length polymorphism（PCR-RFLP） method. Results　In the BPD group，the distribution of AA50 loucs genetype（P = 0.038） and G/C allele （P = 0.012）differed significantly from the control group.The frequencies of AA219，AA50 and AA19 genetypes and alleles were not different between the BPD infants and normal controls.The frequency of the C/C genetype in AA50 was significantly lower in the infants with BPD than in the normal controls. Conclusion　A gene association exists between SPA1 gene and BPD. In BPD ，possession of the C/C genetype in the AA50 would reduce the the risk of BPD

Key words: bronchopulmonary dysplasia, surfactant protein A1, genetic polymorphism, neonate

摘要：

探讨肺泡表面活性物质蛋白A1（SPA1）基因多态性与新生儿支气管肺发育不良（BPD）相关性。方法　应用聚合酶链反应-限制酶切技术（PCR-RFLP）分析2008年7月至2010年10月同济医院接诊的38例武汉汉族BPD患儿与55例对照组的SPA1基因分布。结果　BPD组和对照组之间AA50基因型分布（P = 0.038）和等位基因频率（P = 0.012）差异有统计学意义。AA219、AA62、AA19三个位点基因型分布和等位基因频率差异无统计学意义（P > 0.05）。AA50病例组CC基因型明显低于对照组（7 vs 23），差异有统计学意义（P < 0.05）。结论　SPA1上AA50位点基因多态性可能与新生儿支气管肺发育不良有关，CC基因型可能对BPD患病有保护作用。

关键词: 支气管肺发育不良, 表面蛋白A1, 基因多态性, 新生儿