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目的探讨新生儿呼吸窘迫综合征肺表面活性物质蛋白B的基因突变类型及基因型频率。方法在北京地区选择无血缘关系的汉族新生儿RDS 40例作为RDS组,汉族40例其他病例作为对照组,以胎龄与RDS组相匹配。免疫组化检测SP-B蛋白在肺部细胞的表达,Western blot检测SP-B蛋白在肺部和支气管肺泡灌洗液的表达,PCR及基因测序技术分析SP-B+1 580位点的基因突变。结果 RDS组SP-B蛋白表达阳性细胞数显著低于对照组(t=10.191,P<0.01)。RDS组中,8例肺组织和支气管肺泡灌洗液成熟SP-B蛋白表达同时减少,7例仅支气管肺泡灌洗液成熟SP-B蛋白表达减少。2组SP-B基因+1 580位点均存在纯合和杂合基因突变,RDS组占20例,12例为纯合突变(C/C),8例为杂合突变(C/T);对照组占8例,1例为纯合突变(C/C),7例为杂合突变C/T。RDS组C/C基因型频率为30.0%,C/T基因型频率为20.0%;对照组C/C基因型频率为2.5%,C/T基因型频率为1.75%。RDS组C/C基因型频率较对照组显著增高(χ2=11.114,P<0.01)。结论新生儿呼吸窘迫综合征SP-B+1 580位点存在纯合和杂合基因突变两种类型,其纯合突变(C/C)可能参与了RDS的发病。
Objective To investigate the gene mutation types and genotype frequencies of pulmonary surfactant protein B in neonatal respiratory distress syndrome. Methods 40 unrelated neonates (RDS) from Han nationality in Beijing were selected as the RDS group and 40 cases of Han as the control group, matched with the RDS group. The expression of SP-B protein in lung cells was detected by immunohistochemistry. The expression of SP-B protein in lung and bronchoalveolar lavage fluid was detected by Western blot. The gene of SP-B + 1 580 site was analyzed by PCR and gene sequencing mutation. Results The number of SP-B positive cells in RDS group was significantly lower than that in control group (t = 10.191, P <0.01). RDS group, 8 cases of lung tissue and bronchoalveolar lavage fluid maturation of SP-B protein expression decreased at the same time, only 7 cases of bronchoalveolar lavage fluid maturation SP-B protein expression decreased. Homozygous and heterozygous mutations were found in both the SP-B gene and the +1 580 locus in the two groups, with 20 cases of RDS group, 12 cases of homozygous mutation (C / C) and 8 cases of heterozygous mutation (C / T) ; Control group, 8 cases, 1 case of homozygous mutation (C / C), 7 cases of heterozygous mutation C / T. The frequency of C / C genotype was 30.0% in RDS group and 20.0% in C / T genotype. The frequency of C / C genotype in control group was 2.5% and the frequency of C / T genotype was 1.75%. The frequency of C / C genotype in RDS group was significantly higher than that in control group (χ2 = 11.114, P <0.01). Conclusions There are two types of homozygous and heterozygous mutations in SP-B + 1 580 locus of neonatal respiratory distress syndrome. The homozygous mutation (C / C) may be involved in the pathogenesis of RDS.