肺表面活性蛋白C启动子变异与早产儿呼吸窘迫综合征关系的研究  

THE RELATIONSHIP BETWEEN SURFACTANT PROTEIN-C PROMOTER VARIANTS AND PRETERM RESPIRATORY DISTRESS SYNDROME

作　　者：张艳明[1] 张树英[2] 韦秋芬[3] 唐尚英 宁辛未 陈玉君[1] 

机构地区：[1]广西医科大学第一附属医院新生儿科,南宁530021 [2]南宁市妇幼保健院新生儿科,南宁530011 [3]广西壮族自治区妇幼保健院新生儿科,南宁530003 [4]钦州市妇幼保健院新生儿科,钦州535000

出　　处：《广西医科大学学报》2016年第1期33-35,共3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:研究分析肺表面活性蛋白C(SP-C)启动子变异与早产儿呼吸窘迫综合征(RDS)的关系。方法:以SP-C启动子上的3个SNP位点(rs8192321,rs8192335和rs8192337)为研究对象,应用质谱分析技术对207例早产儿[其中RDS 123例(病例组),非RDS 84例(对照组)]进行基因型分型,比较两组的基因型的分布情况,并与HapMap数据库中其他种族的基因型频率进行比较分析。结果:在rs8192321位点和rs8192335位点上未发现变异;rs8192337位点在对照组中检出1例杂合基因型,其余及病例组均无变异。所有位点的基因型频率在病例组和对照组间无显著差异(P>0.05)。经与HapMap数据库中其他种族比较,欧洲人群的变异基因型频率显著高于中国广西人群。结论:SP-C启动子3个位点在中国广西早产儿中变异频率较低,不构成早产儿RDS发病的高危因素。Objective：To study the relationship between surfactant protein-C（SP-C） promoter variants and preterm respiratory distress syndrome（RDS）. Methods：Using a case-control preterm cohort, including 123 infants with RDS and 84 infants without RDS （control group）, we used Mass Array genotyping methods to genotype 3 SNPs of SP-C promoter （rs8192321, rs8192335 and rs8192337）. Compared the frequency of genotypes between two groups, and compared them with other ethnical groups from the Hapmap Database. Results：We did not find any variant in rs8192321 and rs8192335. Only one heterozygous genotype in rs8192337 was detected in control group, while others were found to carry wild type genotype. No significant difference between two groups was found in 3 SNPs（ P〉0.05）. When compared with European population from dbSNP, we found that European population carried significantly higher variant genotype frequency than Guangxi Chinese cohort. Conclusion： The variant frequency of SP-C promoter in Guangxi Chi- nese preterm cohort is very low and it is unlikely that 3 SNPs provide significant attributable risk for RDS in these preterm population.

关 键 词：SP-C 基因变异 早产儿 呼吸窘迫综合征 

分 类 号：R722[医药卫生—儿科]