SPA1基因多态性与早产儿呼吸窘迫综合征的相关性研究  

RELATIONSHIP BETWEEN SURFACTANT PROTEIN A1 GENE POLYMORPHISM AND RESPIRATORY DISTRESS SYNDROME IN PRETERM INFANTS

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作  者:欧辕 覃慧卷 田文军[1] 陈玉君[1] 

机构地区:[1]广西医科大学第一附属医院儿科,南宁530021

出  处:《广西医科大学学报》2014年第3期399-402,共4页Journal of Guangxi Medical University

基  金:广西自然科学基金资助项目(No.2011GXNSFA018202)

摘  要:目的:探讨肺表面活性蛋白A1(SPA1)基因多态性与早产儿呼吸窘迫综合征(RDS)发病的关系。方法:采用病例对照研究方法,以广西局部地区的早产儿RDS 34例为病例组,以同性别、胎龄及体重相近的非RDS早产儿为对照组,应用TaqMan?实时荧光PCR技术检测SPA1的5个SNP位点(rs1059047、rs1136450、rs1136451、rs1059057、rs4253527)并进行单倍体频率分析。结果:1总体共发现14种等位基因单倍体型,4种未命名单倍体,其中3种既往未见报道。病例组6A2和未命名(CGAAC)的表达频率最高(均为0.250),对照组6A11和未命名(CGAAC)的表达频率最高(均为0.210)。6A2频率在病例组明显高于对照组(P<0.05),6A18在对照组明显高于病例组(P<0.05);2胎龄<32周组检出6种单倍体,病例组中6A3和6A11的表达频率最高(均为0.271)。病例组与对照组比较,各单倍体频率差异均无统计学意义(P>0.05);3胎龄≥32周组中检出单倍体16种,病例组中6A2和未命名(CGAAC)表达频率最高(均为0.250),所有单倍体型频率在病例组和对照组比较差异均无统计学意义(P>0.05)。结论:SPA1基因多态性与早产儿RDS发病风险的关系目前尚不能肯定。Objective:To investigate the relationship between the surfactant protein A1 (SPA1) gene polymorphism and respiratory distress syndrome (RDS) in preterm infants. Methods: Using a case-control cohort design, we recruited 34 preterm infants with RDS and 34 preterm infants without RDS (non-RDS) as control. All infants were Han nationality from Guangxi region. Both RDS and non-RDS groups were matched with gestational age and gender. Five single nucleotide polymorphisms (SNPs) of SPA1 (rs1059047, rs1136450, rs1136451, rs1059057 and rs4253527) were detected using TaqMan real-time polymerase chain reaction technology, and their haplotypes were analysed. Results: Fourteen haplotypes were identified in total study infants, 4 of them were unassigned and 3 were novel. The frequency of 6A^2 and unassigned CGAAC in RDS group, and 6A11 and CGAAC in non-RDS group was the highest. The frequency of 6A^2 was higher in RDS than in non-RDS groups, whereas the frequency of 6A^18 was higher in non-RDS than in RDS groups ( P 〈0.05). In subgroup of gestation age of smaller than 32 weeks, we identified 6 haplptypes. The frequency of 6A^3 and 6A^11 was the highest in RDS group. No significant difference of each haplotype frequency was found between RDS and non-RDS groups. In subgroup of gestation age of larger and equal to 32 weeks, we identified 16 haplotypes. The frequency of 6A^2 and CGAAC was the highest in RDS group. No significant difference of each haplotye frequency was found between RDS and non- RDS groups. Conclusion: Contribution of variant in SPA1 to high risk of RDS is still unknown.

关 键 词:肺表面活性蛋白A1 基因多态性 呼吸窘迫综合征 早产儿 

分 类 号:R722.1[医药卫生—儿科]

 

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