肺泡表面活性物质B-18基因多态性与新生儿呼吸窘迫综合征易感性关系分析

Relationship between gentic polymorphism of surfactant protein B(SPB)-18 and neonatal respiratory distress syndrome susceptibility

目的了解肺泡表面活性物质蛋白B(SPB)-18基因多态性与新生儿呼吸窘迫综合征(NRDS)易感性的关系。方法 (1)高分辨率熔解曲线法和基因测序法检测2009年5月至2010年12月武汉市妇女儿童医疗保健中心和华中科技大学同济医学院附属同济医院100例NRDS患儿及186名同胎龄儿SPB-18多态性位点基因型和等位基因的差异。(2)应用蛋白印记法分析技术(WB)检测2009年5月至2010年12月武汉市妇女儿童医疗保健中心31例基因型为SPB-18AA和36例SPB-18CC的足月新生儿支气管肺泡灌洗液中SPB水平,比较两组之间差异。结果 (1)SPB-18A/C基因在NRDS组和对照组中AA、AC、CC的基因型频率分别为11.0%、40.0%、49.0%和6.5%、31.7%、61.8%,两组基因型分布差异无统计学意义(χ2=4.83,P>0.05。);但等位基因A频率在NDRS组和对照组间分别为31.0%和22.3%,差异有统计学意义(χ2=5.19,P<0.05)。(2)基因型为SPB-18AA者比CC者支气管肺泡灌洗液中SPB蛋白水平低。WB灰度值分别为8002.3±452.9和14339.2±1076.3,两组差异有统计学意义(P<0.05)。结论 SPB-18基因多态性是NRDS的危险因素,A等位基因可能通过影响SPB水平,增加NRDS易感性。

Objective To study the relationship between gene polymorphism of Surfactant Protein B （SPB） -18 andneonatal respiratory distress symdrome susceptibility. Methods Totally 100 neonates diagnosed with NRDS and 186 gestational age, gender and birth weight matched neonates were enrolled from May. 2009 to Dec. 2010. The genetic polymorphism of SPB-18 was analyzed with high resolution melting （HRM）and gene sequence. Non-brochoscopic bronchoalveolar lavage （ BALF ）was performed from May 2009 to Dec. 2010 in 31 babies with SPB-18AC and 36 babies with SPB-18CC in Wnhan Children＇s hospital. The levels of SPB in BALF were measured using Western blot （WB）. Statistieal analyses were carred out using SPSS software , version 13.0. Results The SPB-18AA, AC and CC genotype frequencies in NRDS patients were 11.0%, 40.0% and 49.0%, Which were 6.5%, 31.7% and 61.8% in control group, P 〉 0.05, with no significant differenee .The frequencies of A allele was：higher in NRDS group than that in control group, （31.0% vs 22.3% ）, P 〈 0.05. There was difference in amounts of SPB in BALF from SPB-18 CC and AA individuals.The optical density was 14339.2 ± 1076.3 vs 8002.3 ± 452.9, P 〈 0.05. Conclusion Our study suggests that SPB-18 polymorphism may confer susceptibility to DRDS in Chinese. Differences in amounts of SPB resulting from the promoter SNP eould affeet the clinical presentation of NRDS.