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首页> 外文期刊>International Journal of Clinical and Experimental Pathology >Surfactant protein B deficiency and gene mutations for neonatal respiratory distress syndrome in China Han ethnic population
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Surfactant protein B deficiency and gene mutations for neonatal respiratory distress syndrome in China Han ethnic population

机译：中国汉族人群新生儿呼吸窘迫综合征的表面活性蛋白B缺乏症和基因突变

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Objective: To determine whether the SP-B deficiency and gene mutations in exon 4 is associated with neonatal RDS in China Han ethnic population. Methods: The study population consisted of 40 neonates with RDS and 40 neonates with other diseases as control in China Han ethnic population. We Compared SP-B expression in lung tissue and bronchoalveolar lavage fluid with immunoblotting, and analyzed mutations in the SP-B gene with polymerase chain reaction (PCR) and gene sequencing. Results: In RDS group, low mature Surfactant protein B was found in both lung tissue and bronchoalveolar lavage fluid in 8 neonates. In control group, only 4 neonates with low mature Surfactant protein B in both lung tissue and bronchoalveolar lavage fluid. In RDS group, 20 neonates were found to have mutations in exon 4, 12 homozygous mutations with C/C genotype and 8 heterozygous mutations with C/T genotype in surfactant protein B gene+1580 polymorphism. There were 8 cases mutations in control group, 1 in C/C and 7 in C/T genotype. The frequency of homozygotes with C/C genotype was 0.3 and frequency of heterozygotes with C/T genotype was 0.02 in RDS group. In control group, frequency of homozygotes with C/C genotype was 0.025 and frequency of heterozygote with C/T genotype was 0.175. Conclusion: Low mature Surfactant protein B is associated with the pathogenesis of neonatal respiratory distress syndrome (RDS) in China Han ethnic population. Mutations in exon 4 of the surfactant protein B gene demonstrate an association between homozygous mutations with C/C genotype in SP-B gene and neonatal RDS.
机译：目的：确定外显子4的SP-B缺陷和基因突变是否与中国汉族人群的新生儿RDS相关。方法：以中国汉族人群为研究对象，包括40例RDS新生儿和40例其他疾病为对照的新生儿。我们通过免疫印迹比较了肺组织和支气管肺泡灌洗液中SP-B的表达，并通过聚合酶链反应（PCR）和基因测序分析了SP-B基因的突变。结果：在RDS组中，在8名新生儿的肺组织和支气管肺泡灌洗液中均发现了低成熟的表面活性蛋白B。在对照组中，只有4个新生儿的肺组织和支气管肺泡灌洗液中的成熟表面活性剂蛋白B低。在RDS组中，发现表面活性剂蛋白B基因+1580多态性的4个外显子有4个外显子突变，12个具有C / C基因型的纯合突变和8个具有C / T基因型的杂合突变。对照组有8例发生突变，C / C为1例，C / T基因型为7例。 RDS组C / C基因型纯合子频率为0.3，C / T基因型杂合子频率为0.02。对照组C / C基因型纯合子频率为0.025，C / T基因型杂合子频率为0.175。结论：低水平的表面活性剂蛋白B与中国汉族人群新生儿呼吸窘迫综合征（RDS）的发病机制有关。表面活性剂蛋白B基因第4外显子的突变表明SP-B基因C / C基因型的纯合突变与新生儿RDS之间存在关联。

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