足月新生儿呼吸窘迫综合征SP-B+1580基因突变分析

目的 分析SP-B+1580基因突变与足月新生儿呼吸窘迫综合征(respiratory distress syndrome,RDS)的相关因素。 方法 312例汉族足月RDS新生儿作为RDS组和156例汉族足月健康新生儿作为对照组。PCR扩增 SP-B exon4并测序;免疫组化技术分析肺部SP-B 和proSP-B表达。 结果 两组 SP-B+1580 位点存在CC、C/T、TT 3种基因型,RDS组C/T基因型频率明显高于对照组(P<0.05)。具有C/T基因型的RDS患儿,剖宫产、机械通气、死亡的发生率较其他基因型高,胸片显示RDS程度较重、需要肺表面活性物质的剂量大[200 mg/(kg·次),3~4剂](P<0.01)。50例伴有C/T基因型的RDS死亡患儿中有19例患儿成熟SP-B和proSP-B蛋白肺部表达减少。 结论 SP-B+1580位点C/T基因型可引起成熟SP-B和proSP-B蛋白在肺部的减少,是足月新生儿RDS发病的高危因素。

Analysis of gene mutation in surfactant protein B + 1580 site on full-term newborns with respiratory distress syndrome

Objective To analyze correlative factor between gene mutation (SP-B +1580) and respiratory distress syndrome(RDS) in full-term newborns. Methods There were 312 Han full-term newborns with RDS as RDS group and 156 Han healthy full-term newborns as control group.Genotypic analysis on exon 4 was performed with polymerase chain reaction amplification(PCR) and gene sequencing.Analysis of for expression of SP-B and proSP-B in lung were determined with immunohistochemical technique. Results Three genotypes of SP-B+1580 including CC,C/T,TT were discovered in two groups.Frequency of C/T genotype in RDS group was higher than that in control group(P<0.05).Patients with C/T genotype had higher rates on uterine-incision delivery mechanical ventilation and mortality chest X-ray grade showed severity about RDS,and needed more pulmonary surfactants(P<0.01).19 patients with decreased mature SP-B and proSP-B were among 50 cases of dead patients with C/T genotypes. Conclusion C/T genotype in SP-B +1580 site causing decreased mature SP-B and proSP-B may be the high risk for RDS.