ORMDL3基因多态性在哮喘高危患儿中的研究  

Study of ORMDL3 Gene Polymorphism in Asthma High-risk Children

作　　者：芦爱萍[1] 林岳华 张苏婉 张进[1] 刘冬华[1] 

机构地区：[1]深圳市第五人民医院儿科,广东深圳518000 [2]深圳市第七人民医院儿科,广东湛江524000 [3]深圳市横岗人民医院康复科,广东深圳518115

出　　处：《医学综述》2012年第13期2111-2113,共3页Medical Recapitulate

摘　　要：目的探讨广东深圳地区汉族哮喘高危新生儿ORMDL3基因单核甘酸多态性现象,为预测当地哮喘高危新生儿哮喘发生的可能性和风险度提供依据。方法采用病例-对照研究,对广东深圳地区汉族30例哮喘高危新生儿和30例健康新生儿进行研究,利用DNA抽提试剂盒提取试验对象外周血的DNA,通过聚合酶链反应技术联合DNA片段测序对ORMDL3基因的单核苷酸多态性位点rs7216389进行基因型和等位基因频率分析。结果 ORMDL3基因上的rs7216389位点,哮喘高危组中出现单核甘酸多态性有23例(76.7%)。其中CT型6例(20.0%),TT型17例(56.7%)。对照组中出现核苷酸多态性有12例(40%)。其中CT型4例(13.3%),TT型8例(26.7%)。哮喘高危组和对照组之间有统计学意义(P<0.05)。结论 rs7216389位点单核甘酸多态性与哮喘高危组相关联,可能为广东深圳地区汉族人群中支气管哮喘的易感位点。Objective To study ORMDL3 gene polymorphism in high-risk asthma newborns born in Han nationality in Shenzhen Guangdong,in order to provide basis to predict the possibility and risk of asthma of local newborns.Methods This was a case-control study,which enrolled 30 cases infants at high risk of asthma and 30 healthy newborns of Han from Shenzhen,Guangdong.Genomic DNA was extracted from cells in the peripheral blood by using DNA extraction kit.PCR and DNA sequencing combined technology was used to analyze the genotype and gene frequency of rs7216389 in ORMDL3.Results For the rs7216389 in ORMDL3 gene locus,high-risk group of single nucleotide polymorphisms occurred in 23 cases（76.7%）.6 cases with CT-type（20%）,TT-type 17 cases（56.7%）.Nucleotide polymorphisms in the control group were 12 cases（40%）.4 cases with CT-type（13.3%）,8 cases with TT-type（26.7%）.Difference between the high-risk group and control group was statistically significant（P〈0.05）.Conclusion Study for two SNPs in ORMDL3 gene loci have shown that rs7216389 single nucleotide polymorphism loci in high-risk group is associated with asthma risk cases,and it may be asthma susceptibility locus in Chinese Han population of Shenzhen Guangdong.

关 键 词：基因 哮喘 新生儿 

分 类 号：R725.6[医药卫生—儿科]