目的探讨肺表面活性物质蛋白B(SP=B)T131I位点基因多态性及其与新生JLn3z吸窘迫综合征(RDS)易感性的关系。方法选择2009年9月至2016年2月内蒙古医科大学附属医院儿科收治、居住在内蒙古西部地区的RDS汉族早产儿为RDS组,同期选择未发生RDS且排除感染的汉族早产儿为对照组,RDS组与对照组纳入比例为1:1。采用聚合酶链反应(PCR)基因分析技术检测SP.BT131I位点的基因型、等位基因分布。结果共纳入内蒙古西部地区汉族早产儿282例,RDS组和对照组各141例。纳入的早产儿SP.BT131I位点可检出CC、CT、TT3种基因型,RDS组3种基因型频率分别为62.4%、27.7%、9.9%,C等位基因频率为76.2%,T等位基因频率为23.8%。对照组3种基因型分别为50.4%、35.5%、14.2%,C等位基因频率为68.1%,T等位基因频率为31.9%。两组基因型频率差异无统计学意义(P〉0.05),RDS组C等位基因频率明显高于对照组(P〈0.05)。结论SP.BT131I位点C等位基因多态性可能与内蒙古西部地区汉族早产儿患RDS有关。
Objective To study the relationship between the pulmonary surfactant protein B (SP-B) gene T131I polymorphism and the susceptibility of respiratory distress syndrome (RDS) of newborn. Methods From September 2009 to February 2016, Han premature infants admitted to Affiliated Hospital of Inner Mongolia Medical University were prospectively recruited. Participating infants diagnosed with RDS were assigned to RDS group, and infants without RDS nor infectious diseases were assigned to control group. PCR was used to detect the genotype and allele distribution of SP-B T131I locus: Results A total of 141 cases were recruited to each group. Three genotypes CC, CT and TY were detected on SP-B T1311 locus of the premature infants. The distributions of genotype CC, CT and TI" in the RDS group were 62. 4%, 27. 7% and 9.9%, and 50.4%, 35.5% and 14. 2% in the control group. No statistically significant differences existed between these two groups ( P 〉0. 05 ). The frequency of allele C in RDS group was significantly higher than the control group (76. 2% vs. 68. 1%, P 〈 0. 05 ). Conclusion The polymorphism of SP-B C allele in T131I locus may be associated with the RDS of Han premature newborns in the western region of Inner Mongolia.