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目的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(7vs23),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。
Objective To investigate the relationship between polymorphism of alveolar surfactant protein A1 (SPA1) and bronchopulmonary dysplasia (BPD) in neonates. Methods PCR-RFLP was used to analyze the distribution of SPA1 gene in 38 cases of Wuhan Han children with 55 controls from Tongji Hospital from July 2008 to October 2010. Results The distribution of AA50 genotype (P = 0.038) and allele frequency (P = 0.012) between the BPD group and the control group had statistical significance. AA219, AA62, AA19 three loci genotype distribution and allele frequency difference was not statistically significant (P> 0.05). The CC genotype of AA50 cases was significantly lower than that of the control group (7 vs 23), the difference was statistically significant (P <0.05). Conclusion The gene polymorphism of AA50 in SPA1 may be related to bronchopulmonary dysplasia in neonates. CC genotype may have a protective effect on the pathogenesis of BPD.