肺表面活性物质蛋白B基因多态性与新生儿呼吸窘迫综合征易感性的相关性研究

Relationship between pulmonary surfactant-associated protein B polymorphisms and the susceptibility to neonatal respiratory distress syndrome

摘要:

目的：研究肺表面活性物质蛋白（SP）B基因单核苷酸多态性分布以及与新生儿呼吸窘迫综合征（RDS）的关系。方法：选择88例RDS早产儿和未并发RDS的早产儿103例作为研究对象，采用DNA提取试剂盒提取DNA，应用聚合酶联反应-限制性片段长度多态性技术检测SP-B-18A/C、SP-B 1580C/T两个位点的单核苷酸多态性，分析两个位点多态性与RDS的关系。结果：SP-B -18A/C、SP-B 1580C/T两个位点在病例组和对照组中均存在多态性，与未并发RDS的早产儿对照组比较，RDS患儿SP-B 1580C/T位点基因型以CC型明显增多，（χ2=12.26，P0.05）。结论：SP-B 1580 位点C/T多态性与RDS有关，SP-B 1580C/T可能是RDS的易感基因，携带SP-B 1580位点C等位基因的个体患RDS的风险增加。SP-B-18A/C与RDS无关。

Abstract:

OBJECTIVE: To study the relationship between pulmonary surfactant-associated protein B (SP-B) gene polymorphisms and their susceptibility to neonatal respiratory distress syndrome (RDS). METHODS: Eighty-eight preterm infants with RDS (RDS group) and 103 infants without RDS (control group) were enrolled. The genomic DNA was isolated using DNA kits. Polymerase chain reaction with restriction fragment length polymorphism technique was used to detect the genotype and allele frequency of the SP-B -18A/C and SP-B 1580C/T single nucleotide polymorphisms. The association between the polymorphisms and RDS was analyzed. RESULTS: SP-B -18A/C and SP-B 1580C/T were found to be polymorphic in both RDS and control groups. The frequencies of CC genotype (χ2=12.26，P＜0.01) and C allele (χ2=11.97, P＜0.01) of SP-B 1580C/T were significantly higher in the RDS group than in the control group. The C allele significantly increased the risk of RDS (OR=2.26, 95%CI: 1.42-3.60). The frequencies of genotype and allele of SP-B -18A/C showed no significant difference between the two groups. CONCLUSIONS: SP-B 1580C/T polymorphism contributes to the etiology of RDS and may serve as the susceptibility gene for RDS. The C allele increases the risk of RDS. SP-B -18A/C shows no association with the etiology of RDS.