20例汉族新生儿呼吸窘迫综合征的SP-B遗传缺陷的研究

摘要：Objective To investigate the relationship between expression of surfactant protein B (SP-B) gene product and neonatal respiratory distress syndrome (NRDS) in Han ethnic group.Methods Unrelated 20 cases with NRDS of Han ethnic group were selected as NRDS group while unrelated 20 cases of Han ethnic group with other diseases were selected as a control. The cases in the control group had congenital heart disease or bronchopulmonary dysplasia or persistent pulmonary artery hypertension. Blood sample was taken from each case. Lung tissues were taken from the patients in half an hour after their death in the two groups. Expression of SP-B in the lung tissues was determined with immunohistochemical technique. Genetic deficiency variant of SP-B intron Ⅳ was screened with polymerase chain reaction (PCR).Results Two cases at gestational age of 26 weeks, one at 34 weeks and two at 42 weeks in the NRDS groups had lower expression level of SP-B in the lung tissues than those at the same age in the the control group. Expression of SP-B in the lung tissues of the 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.Conclusion Decrease of SP-B expression may be involved in occurrence of NRDS, genetic deficiency variant of SP-B intron Ⅳ exists in NRDS cases of Han ethnic group of China.