[1]曲雯雯,范含笑,谢露,等.新生儿呼吸窘迫综合征SP-B+1 580基因表达及遗传多态性分析[J].陆军军医大学学报(原第三军医大学学报),2012,34(20):2070-2074.
 Qu Wenwen,Fan Hanxiao,Xie Lu,et al.Expression and polymorphism of surfactant protein B gene +1 580 in neonatal respiratory distress syndrome[J].J Amry Med Univ (J Third Mil Med Univ),2012,34(20):2070-2074.
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新生儿呼吸窘迫综合征SP-B+1 580基因表达及遗传多态性分析(/HTML )
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陆军军医大学学报(原第三军医大学学报)[ISSN:1000-5404/CN:51-1095/R]

卷:
34卷
期数:
2012年第20期
页码:
2070-2074
栏目:
论著
出版日期:
2012-10-30

文章信息/Info

Title:
Expression and polymorphism of surfactant protein B gene +1 580 in neonatal respiratory distress syndrome
作者:
曲雯雯范含笑谢露王钰魏巍尹晓娟
北京军区总医院:附属八一儿童医院新生儿科,大连医科大学临床学院
Author(s):
Qu Wenwen Fan Hanxiao Xie Lu Wang Yu Wei Wei Yin Xiaojuan
Department of Newborns, Affiliated Bayi Children’s Hospital,Clinic College of Dalian Medical University, General Hospital of Beijing Military Command, Beijing, 100700, China
关键词:
新生儿呼吸窘迫综合征肺表面活性物质蛋白B基因突变
Keywords:
newbornrespiratory distress syndromepulmonary surfactant-associated protein B genetic mutation
分类号:
R394.2;R722.12
文献标志码:
A
摘要:
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。
Abstract:
Objective      To investigate the types of mutation and genotypic frequency of surfactant protein B (SP-B) in neonatal respiratory distress syndrome (RDS).       Methods      Unrelated 40 cases with neonatal RDS of Han ethnic group in Beijing region in our department from August 2006 to April 2011 were selected as RDS group, while unrelated 40 other cases of Han ethnic group in same period were selected as control group. Two groups matched with gestational age. Expression of SP-B in lung cells was tested with immunohistochemical assay. Expression of SP-B in lung tissue and bronchoalveolar lavage fluid (BALF) was determined with Western blotting. Types of genetic mutations in SP-B +1 580 locus were screened with polymerase chain reaction (PCR) and gene sequencing.       Results      The number of SP-B positive cells were less in RDS group than in control group(t=10.191,P<0.01). Eight cases in RDS group simultaneously had lower expression level of mature SP-B in lung tissue and BALF, while 7 cases in the same group had lower level of mature SP-B only in BALF. Genetic mutations including homozygous and heterozygous mutation existed in SP-B exon 4 of both 2 groups, which located in +1 580 site of SP-B gene. Twenty cases had gene mutation of SP-B in RDS group, including 12 homozygous mutations with C/C genotypes and 8 heterozygous mutations with C/T genetic types. Eight cases had gene mutations of SP-B +1 580 in control group including 1 homozygous mutation with C/C genotype and 7 heterozygous mutations with C/T genotypes. Genotypic frequency of homozygous mutation(C/C) of SP-B +1 580 in RDS group was 30.0% while that of heterozygous mutation (C/T) was 20.0%. Genotypic frequency of homozygous mutation(C/C) of SP-B +1 580 in control group was 2.5% while that of heterozygous mutation(C/T) was 1.75%. Genotypic frequency of heterozygous mutation(C/C) in RDS group had higher level than that in control group (Chi square=11.114, P<0.01).       Conclusion      Genetic mutations including homozygous and heterozygous mutation exist in SP-B gene +1 580 in neonatal RDS, and the homozygous mutation (C/C) at the SP-B+1 580 site is associated with occurrence of RDS.

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更新日期/Last Update: 2012-10-18