摘要
目的探讨汉族群体新生儿呼吸窘迫综合征发病的遗传机制，为进一步开展基因治疗NRDS提供科学实验依据。方法选择彼此无关的汉族NRDS20例作为NRDS组，选择彼此无关的汉族20例其他病例作为对照组，年龄与NRDS组相匹配，这些患儿可患有先心病、支气管肺发育不良、持续肺动脉高压。所有研究对象在临床确诊或住院后取血样本，NRDS组和对照组在患者死后30min内取肺组织。采用免疫组化技术检测SP—B在肺部的表达，PCR技术分析筛选SP-B基因Intron 4的遗传缺陷变异体。结果20例NRDS患儿中，26周2例、34周1例、42周2例SP-B蛋白在肺部的表达明显较同胎龄对照组少；而对照组随着胎龄的增加，SP-B在肺部的表达增加，但在NRDS组却无这种规律可寻，进一步对这5例进行基因分析发现，2例42周的NRDS患儿SP—B基因Intron 4 121ins2遗传缺陷变异体。临床资料表明，42周胎龄的NRDS患儿病情重。结论SP—B减少参与了NRDS的发病，汉族群体NRDS存在SP-B基因intron 4 121ins2遗传缺陷变异体，进一步在国内研究SP-B遗传缺陷变异体可望为疾病基因组样本库积累资料。
Objective To investigate possible relationship between expression of surfactant protein B （SP-B） gene product and neonatal respiratory distress syndrome （NRDS） in Han ethnic group. Method Unrelated 20 cases with NRDS of Han ethnic group were selected as NRDS group while unrelated 20 diseases cases of Han ethnic group with diseases were selected as control group. The cases in the control group had congenital heart disease or bronchopulmonary dysplasia or persistent pulmonary hypertension. Blood sample was taken from every case. Lung tissues were taken from the patients who died half an hour after death in the two groups. Expression of SP-B in lung tissue was determined with immunohistochemical tecnique. Genetic deficiency variant of SP-B intron IV was screened with polymerase chain reaction （PCR）. Results Two cases at gestational age 26 weeks and one case at gestational age 34 weeks and two cases at gestational age 42 weeks of NRDS groups had lower level expression of SP-B in lung tissue than those at the same age of NRDS. Expression of SP-B in lung tissue of control group increased with gestational age, but no such phenomenon was found in NRDS group. Further, two cases at gestational age 42 weeks of NRDS group had genetic deficiency variant of SP-B intron Ⅳ with gene analysis of five cases who had lower expression of SP-B. Clinical data suggest that patients at 42 weeks of gestational age had severe illness. Conclusions Decrease of SP-B expression may participate in occurrence of NRDS, genetic deficiency variant of SP-B intron Ⅳ exists in the NRDS cases of Han ethnic group of China.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2008年第1期9-12,共4页
Chinese Journal of Pediatrics
