期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

肺表面活性物质蛋白B基因多态性与新生儿呼吸窘迫综合征易感性的相关性研究 被引量：26

Relationship between pulmonary surfatcant-associated protein B polymorphisms and the susceptibility to neonatal respiratory distress syndrome
原文传递
导出
摘要 目的研究肺表面活性物质蛋白(SP)B基因单核苷酸多态性分布以及与新生儿呼吸窘迫综合征(RDS)的关系。方法选择88例RDS早产儿和未并发RDS的早产儿103例作为研究对象,采用DNA提取试剂盒提取DNA,应用聚合酶联反应-限制性片段长度多态性技术检测SP-B-18A/C、SP-B 1580C/T两个位点的单核苷酸多态性,分析两个位点多态性与RDS的关系。结果 SP-B-18A/C、SP-B 1580C/T两个位点在病例组和对照组中均存在多态性,与未并发RDS的早产儿对照组比较,RDS患儿SP-B 1580C/T位点基因型以CC型明显增多,(χ2=12.26,P<0.01),C等位基因分布频率显著增高(χ2=11.97,P<0.01),携带C等位基因的个体患RDS的风险是非携带者的2.26倍(OR=2.26,95%CI:1.42～3.60)。两组SP-B-18A/C位点的基因型和等位基因分布频率,差异均无统计学意义(P>0.05)。结论 SP-B 1580位点C/T多态性与RDS有关,SP-B 1580C/T可能是RDS的易感基因,携带SP-B 1580位点C等位基因的个体患RDS的风险增加。SP-B-18A/C与RDS无关。 Objective To study the relationship between pulmonary surfatcant-associated protein B（SP-B） gene polymorphisms and their susceptibility to neonatal respiratory distress syndrome（RDS）.Methods Eighty-eight preterm infants with RDS（RDS group） and 103 infants without RDS（control group） were enrolled.The genomic DNA was isolated using DNA kits.Polymerase chain reaction with restriction fragment length polymorphism technique was used to detect the genotype and allele frequency of the SP-B-18A/C and SP-B 1580C/T single nucleotide polymorphisms.The association between the polymorphisms and RDS was analyzed.Results SP-B-18A/C and SP-B 1580C/T were found to be polymorphic in both RDS and control groups.The frequencies of CC genotype（χ2=12.26,P0.01） and C allele（χ2=11.97,P0.01） of SP-B 1580C/T were significantly higher in the RDS group than in the control group.The C allele significantly increased the risk of RDS（OR=2.26,95%CI： 1.42-3.60）.The frequencies of genotype and allele of SP-B-18A/C showed no significant difference between the two groups.Conclusions SP-B 1580C/T polymorphism contributes to the etiology of RDS and may serve as the susceptibility gene for RDS.The C allele increases the risk of RDS.SP-B-18A/C shows no association with the etiology of RDS.
作者 卢维城 向伟 吴明 郑旭 林静 陈兴月 魏海波 詹端 李春蕾
机构地区 海南省人民医院新生儿科 海南省妇幼保健院 海南省人民医院心脏内科
出处 《中国当代儿科杂志》 CAS CSCD 北大核心 2012年第1期24-27,共4页 Chinese Journal of Contemporary Pediatrics
基金 海南省卫生厅课题(琼卫2009-24)
关键词 呼吸窘迫综合征 肺表面活性物质蛋白B 单核苷酸多态性 新生儿 Respiratory distress syndrome Pulmonary surfactant protein B Single nucleotide polymorphism Newborn infant
分类号 R722.1 [医药卫生—儿科]
  • 相关文献

参考文献15

  • 1Whitsen JA, Nogee LM, Weaver TE, Horowitz AD. Human surfactant protein B : structure, function, regulation, and genetic disease[ J ]. Physiol Rev, 1995, 75 (4) : 749-757.
  • 2Floros J, Veletza SV, Kotikalapudi P, Krizkova L, Karinch AM, Friedman C, et al. Dinueleotide repeats in the human surfaetant protein B gene and respiratory distress syndrome [ J ]. Biochem J, 1995, 305(Pt 2): 583-590.
  • 3Nogee LM, Wert SE, Proffit SA, Hull WM, Whitsett JA. Allelic heterogeneity in surfactant protein B deficiency[ J]. Am J Respir Crit Care Med, 2000, 161 (3 Pt 1 ) : 973-981.
  • 4金汉珍.新生儿呼吸窘迫综合征[M].//金汉珍,黄德珉,官希吉.实用新生儿学.第3版.北京:人民卫生出版社,2003:421-427.
  • 5Lyra PP, Vaz FA, Moreira PE, Hoffmann JW, Demello DE, Diniz EM. Comparison of surfactant protein B polymorphisms of healthy term newborns with preterm newborns having respiratory distress syndrome[J]. Braz J Med Biol Res, 2007, 40(6) : 779- 786.
  • 6Vamvakopoulos NC, Mody WS, Floros J. Mapping the human pulmonary surfactant-associated protein B gene (SFTP3) to chromosome 2p12→p11.2 [ J ]. Cytogenet Cell Genet, 1995, 68 ( 1-2 ) : 8-10.
  • 7Clark JC, Weft SE, Bachurski CJ, Stahlman MT, Stripp BR, Weaver TE, et al. Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn mice[J]. Proc Natl Acad Sci U S A, 1995, 92(17) : 7794-7798.
  • 8deMello DE, Phelps DS, Patel G, Floros J, Laqunoff D. Expression of the 35 kDa and low molecular weight surfactant-associated proteins in the lungs of infants dying with respiratory distress syndrome[J]. Am J Pathol,1989,134(6) : 1285-1293.
  • 9Wert SE, Whitsett JA, Nogee LM. Genetic disorders of surfactant dysfunction[J]. Pediatr Dev Pathol, 2009, 12(4) : 253-274.
  • 10尹晓娟,罗分平,李爱华,安育林,封志纯.20例汉族新生儿呼吸窘迫综合征肺表面活性物质蛋白遗传缺陷的研究[J].中华儿科杂志,2008,46(1):9-12. 被引量：10

二级参考文献11

  • 1Nogee LM, Wert SE, Proffit SA, et al. Allelic Heterogeneity in Hereditary Surfaetant Protein B ( SP-B ) Deficiency. Am J Respir Crit Care Med, 2000, 161:973-981.
  • 2Floros J, Fan R. Surfactant protein A and B genetic variants and respiratory distress syndrome: allele interactions. Biol Neonate, 2001, 80:22-25.
  • 3Marttila R, Haataja R, Ramet M, et al. Surfactant protein B polymorphism and respiratory distress syndrome in premature twins. Hum Genet, 2003, 112:18-23.
  • 4Gong MN, Wei Z, Xu LL, et ah Polymorphism in the surfactant protein-B gene, gender, and the risk of direct pulmonary injury and ARDS. Chest, 2004, 125:203-211.
  • 5Whitsett JA, Wert SE, Xu Y. Genetic disorders of surfactant homeostasis. Biol Neonate, 2005,87:283-287.
  • 6Yurdakok M. Inherited disorders of neonatal lung diseases. Turk J Pediatr, 2004, 46:105-114.
  • 7Wilder MA. Surfactant protein B deficiency in infants with respiratory failure. J Perinat Neonatal Nurs, 2004,18: 61-67.
  • 8Ryan MA, Akinbi HT, Serrano AG, et al. Antimicrobial activity of native and synthetic surfactant protein B peptides. J Immunol, 2006.176:416-425.
  • 9Nesslein LL, Melton KR, Ikegami M, et al. Partial SP-B deficiency perturbs lung function and causes air space abnormalities. Am J Physiol Lung Cell Mol Physiol, 2005,288: L1154-1161.
  • 10Merrill JD, Ballard RA, Cnaan A, et al. Dysfunction of pulmonary surfactant in chronically ventilated premature infants. Pediatr Res, 2004, 56:918-926.

共引文献12

同被引文献224

引证文献26

二级引证文献125

中国当代儿科杂志
2012年 第1期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部