SP-B外显子4(T131I)位点与蒙古族新生儿呼吸窘迫综合征相关性研究  

Correlation between the SP-B exon 4 (T131I) and neonatal respiratory distress syndrome in Western Inner

作　　者：胡亚楠[1] 张亚昱[1] 刘春丽[1] 刘春枝[1] 梅花[1] 王晶[1] 新春 

机构地区：[1]内蒙古医科大学附属医院新生儿科,内蒙古呼和浩特010050

出　　处：《临床儿科杂志》2016年第11期846-849,共4页Journal of Clinical Pediatrics

基　　金：国家自然科学基金项目(No.81260107);内蒙古自然科学基金项目(No.2011MS1111)

摘　　要：目的：探讨SP-B外显子4（T131I）位点与内蒙古西部地区新生儿呼吸窘迫综合征（NRDS）易感性的关系。方法采用病例对照研究方法，选择于2009年9月－2016年2月住院诊断为NRDS的蒙古族早产儿86例作为病例组，选择同期未发生NRDS的蒙古族早产儿86例作为对照组。应用聚合酶链反应-单链构象多态（PCR-SSCP）分析技术及基因测序技术检测SP-B基因exon 4区域上有无突变，以及T131I位点的基因型、等位基因分布。结果在所有研究对象中，SP-B基因exon 4区域无突变发生，T131I位点基因型均可检出3种基因型，即CC、CT、TT，病例组所占比例分别为58.1%、27.9%、14.0%，对照组分别为40.7%、43.0%、16.3%，两组基因型分布的差异无统计学意义（χ^2=5.57，P=0.062）；病例组C等位基因频率为80.2%，高于对照组（64.0%），差异有统计学意义（χ^2=11.33，P＜0.001）。结论SP-B基因外显子4（T131I）位点基因多态性可能是蒙古族NRDS易感基因之一。Objective To explore the relationship between theSP-B exon 4 （T131I） and susceptibility of neonatal respiratory distress syndrome （NRDS） in Western Inner Mongolia.Methods A case control study from September 2009 to February 2016 in the Afifliated Hospital of Inner Mongolia Medical University neonatal ward was performed. Eighty-six preterm infants of Mongol nationality suffered from NRDS were selected as the case group, while eighty-six preterms in the same period without NRDS were selected as the control group. Polymerase chain reaction were used to detect mutations in exon 4 ofSP-B, genotype, and allelic distribution of T131I of exon 4, as well.Results Newborns in western Inner Mongolia：①No mutation was found inSP-B exon 4.②The frequencies of genotype CC, CT and TT of T131I in the NRDS group were 58.1%、27.9%and 14.0%, respectively. Frequency of allele C were 80.2%, and frequency of allele T were 19.8%. In the control group,the frequencies of genotype CC, CT and TT were 40.7%、43.0% and 16.3%, respectively. Frequency of allele C were 64.0%, and frequency of allele T were 36.0%, there was signiifcant difference in the frequencies ofSP-B exon 4 T131I sites between these two groups （P〈 0.05）.Conclusion There was no mutation found inSP-B exon 4. Exon 4 （T131I） gene polymorphism ofSP-B gene may be one of the susceptible locus of Mongolian infants in the western region of Inner Mongolia.

关 键 词：呼吸窘迫综合征 肺表面活性蛋白B T131I位点 基因多态性 新生儿 

分 类 号：R722.1[医药卫生—儿科]