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肺表面活性物质相关蛋白B基因多态性与新生儿呼吸窘迫综合征易感性的关系

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

作者信息

Lu Wei-Cheng, Xiang Wei, Wu Ming, Zheng Xu, Lin Jing, Chen Xing-Yue, Wei Hai-Bo, Zhan Duan, Li Chun-Lei

机构信息

Department of Neonatology, Hainan Provincial People's Hospital, Haikou 570311, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2012 Jan;14(1):24-7.

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 (X2=12.26, P<0.01) and C allele (X2=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.

摘要

目的

研究肺表面活性物质相关蛋白B(SP-B)基因多态性与新生儿呼吸窘迫综合征(RDS)易感性之间的关系。

方法

纳入88例患RDS的早产儿(RDS组)和103例未患RDS的婴儿(对照组)。使用DNA试剂盒分离基因组DNA。采用聚合酶链反应-限制性片段长度多态性技术检测SP-B -18A/C和SP-B 1580C/T单核苷酸多态性的基因型和等位基因频率。分析多态性与RDS之间的关联。

结果

在RDS组和对照组中均发现SP-B -18A/C和SP-B 1580C/T存在多态性。RDS组中SP-B 1580C/T的CC基因型频率(X2=12.26,P<0.01)和C等位基因频率(X2=11.97,P<0.01)显著高于对照组。C等位基因显著增加了患RDS的风险(OR=2.26,95%CI:1.42-3.60)。两组间SP-B -18A/C的基因型和等位基因频率无显著差异。

结论

SP-B 1580C/T多态性与RDS的病因有关,可能是RDS的易感基因。C等位基因增加了患RDS的风险。SP-B -18A/C与RDS的病因无关。

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