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[新生儿呼吸窘迫综合征中表面活性蛋白A的基因多态性]

[Genetic polymorphism of surfactant protein A in neonatal respiratory distress syndrome].

作者信息

Zhai Liang, Wu Hong-Min, Wei Ke-Lun, Zhao Shi-Meng, Jiang Hong

机构信息

Department of Pediatrics, Shengjing Hospital, China Medical University, Shenyang 110001, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2008 Jun;10(3):295-8.

Abstract

OBJECTIVE

To investigate the characteristics of gene expression of surfactant protein A in Chinese premature infants and the association between surfactant protein A and the risk of neonatal respiratory distress syndrome (RDS).

METHODS

Vein-blood samples (2 mL) from 18 Chinese premature infants with RDS and 28 controls were assayed for SP-A genotypes 6A2, 6A3, 1A0 and 1A1 by SSCP.

RESULTS

The frequency of allele distribution of SP-A1 allele 6A2 and 6A3 was 0.50 and 0.056 respectively in the RDS group and was 0.214 and 0.107 in the control group. Compared with the controls, SP-A1 allele 6A2 was over-represented in the RDS group (P<0.05). In contrast, SP-A1 allele 6A3 tended to be under-represented in the RDS group but there was no statistical difference when compared with the controls. The frequency of allele distribution of SP-A2 allele 1A0 and 1A1 was 0.722 and 0.667 respectively in the RDS group and was 0.679 and 0.821 respectively in the control group. There were no significant differences in the distribution frequency of SP-A2 allele 1A0 and 1A1 between the two groups. In the infants born at gestation >32 weeks, SP-A1 allele 6A2 was over-represented in the RDS group compared with the control group (frequency: 0.56 vs 0.15; P<0.05).

CONCLUSIONS

The frequency of SP-A1 allele 6A2 and 6A3 was low, in contrast, the frequency of SP-A2 allele 1A0 and 1A1 was high in normal Chinese premature infants. SP-A1 allele 6A2 may be a susceptible gene for RDS.

摘要

目的

探讨中国早产儿表面活性蛋白A的基因表达特征及其与新生儿呼吸窘迫综合征(RDS)风险的关联。

方法

采用单链构象多态性(SSCP)法对18例患RDS的中国早产儿和28例对照者的静脉血样本(2 mL)进行SP-A基因6A2、6A3、1A0和1A1分型检测。

结果

RDS组中SP-A1基因6A2和6A3等位基因分布频率分别为0.50和0.056,对照组分别为0.214和0.107。与对照组相比,RDS组中SP-A1基因6A2等位基因频率过高(P<0.05)。相反,RDS组中SP-A1基因6A3等位基因频率有降低趋势,但与对照组相比无统计学差异。RDS组中SP-A2基因1A0和1A1等位基因分布频率分别为0.722和0.667,对照组分别为0.679和0.821。两组间SP-A2基因1A0和1A1等位基因分布频率无显著差异。在孕周>32周出生的婴儿中,与对照组相比,RDS组中SP-A1基因6A2等位基因频率过高(频率:0.56对0.15;P<0.05)。

结论

中国正常早产儿中SP-A1基因6A2和6A3频率较低,相反,SP-A2基因1A0和1A1频率较高。SP-A1基因6A2可能是RDS的易感基因。

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