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

卢维城; 向伟; 吴明; 郑旭; 林静; 陈兴月; 魏海波; 詹端; 李春蕾

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中国当代儿科杂志 ›› 2012, Vol. 14 ›› Issue (1) : 24-27.

论著·临床研究

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

卢维城，向伟，吴明，郑旭，林静，陈兴月，魏海波，詹端，李春蕾

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Relationship between pulmonary surfactant-associated protein B polymorphisms and the susceptibility to neonatal respiratory distress syndrome

LU Wei-Cheng, XIANG Wei, WU Ming, ZHNEG Xu, LIN Jing, CHEN Xing-Yue, WEI Hai-Bo, ZHAN Duan, LI Chun-Lei

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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，P0.05）。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。

Abstract

OBJECTIVE: To study the relationship between pulmonary surfactant-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，P＜0.01) and C allele (χ2=11.97, P＜0.01) 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.

导出引用

卢维城，向伟，吴明，郑旭，林静，陈兴月，魏海波，詹端，李春蕾. 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[J]. 中国当代儿科杂志. 2012, 14(1): 24-27

LU Wei-Cheng, XIANG Wei, WU Ming, ZHNEG Xu, LIN Jing, CHEN Xing-Yue, WEI Hai-Bo, ZHAN Duan, LI Chun-Lei. Relationship between pulmonary surfactant-associated protein B polymorphisms and the susceptibility to neonatal respiratory distress syndrome[J]. Chinese Journal of Contemporary Pediatrics. 2012, 14(1): 24-27

中图分类号： R725.6

参考文献

［1］Whitsett 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.

［2］Floros J, Veletza SV, Kotikalapudi P, Krizkova L, Karinch AM, Friedman C, et al. Dinucleotide repeats in the human surfactant protein B gene and respiratory distress syndrome［J］.Biochem J, 1995, 305（Pt 2）: 583-590.

［3］Nogee 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.

［5］Lyra 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.

［6］Vamvakopoulos 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.

［7］Clark JC, Wert 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.

［8］deMello 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.

［9］Wert 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.

［11］Steagall WK, Lin JP. Moss J. The C/A (-18) polymorphism in the surfactant protein B gene influences transcription and protein levels of surfactant protein B［J］. Am J Physiol Lung Cell Mol Physiol, 2007, 292(2): L448-L453.

［12］Flores J, Thomas NJ, Liu WL, Papagaroufalis C, Xanthou M, Pereira S, et al. Family-based association tests suggest linkage between surfactant protein B (SP-B) (and flanking region) and respiratory distress syndrome (RDS): SP-B haplotypes and alleles from SP-B linked loci are risk factors for RDS［J］. Pediatr Res, 2006, 59(4 Pt 1): 612-621.

［13］Lin Z, Pearson C, Chinchilli V, Pietschmann SM, Luo J, Pison U, et al. Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS［J］. Clin Genet, 2000, 58(3): 181-191.

［14］Haataja R, R-met M , Marttila R, Hallman M. Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome［J］. Human Mol Genet, 2000, 9(18): 2751-2760.

［15］Marttila R, Haataja R, R-met M, Lofgren J, Hallman M. Surfactant protein B polymorphism and respiratory distress syndrome in premature twins［J］.Hum Genet, 2003, 112(1): 18-25.