目的:研究肿瘤坏死因子(tumor necrosis factor，TNF)-α基因变异与蒙古族和汉族早产儿支气管肺发育不良(bronchopulmonary dysplasia，BPD)的关联性，了解不同民族基因型分布情况。方法:收集2016年10月至2018年10月在内蒙古医科大学附属医院新生儿科住院治疗的BPD患儿50例(BPD组)，选择同期住院未发生BPD的50例患儿作为对照组，采用PCR基因分析技术对各组早产儿TNF-α基因进行全外显子测序，检测TNF-α基因外显子上是否有突变发生；明确TNF-α-201位点的基因型情况，分析其与BPD的相关性。结果:未检测到TNF-α全外显子有突变发生。BPD组与对照组早产儿TNF-α基因-201位点均可检出两种基因型，即AG和GG。BPD组和对照组此两种基因型频率分别为10.0%和90.0%、6.0%和94.0%，G等位基因频率分别为95.0%和97.0%，A等位基因频率分别为5.0%和3.0%，两组基因型频率及等位基因频率比较差异均无统计学意义(n P>0.05)。汉族早产儿BPD组和对照组AG及GG两种基因型频率分别为10.3%和89.7%、6.3%和93.7%，G等位基因频率分别为94.8%和96.9%，A等位基因频率分别为5.2%和3.1%；蒙古族早产儿BPD组和对照组此两种基因型频率分别为9.5%和90.5%、5.6%和94.4%，G等位基因频率分别为95.2%和97.2%，A等位基因频率分别为4.8%和2.8%。无论是蒙古族还是汉族TNF-α-201位点基因型频率及等位基因频率与对照组相比差异均无统计学意义(n P>0.05)。n 结论:两组早产儿不论汉族还是蒙古族均未检测出TNF-α全外显子上有突变发生，TNF-α-201位点基因与早产儿BPD的发病无明显相关性，且该位点基因分布在蒙古族和汉族之间无明显差异。“,”Objective:To study the association between tumor necrosis factor (TNF)-α gene variation and bronchopulmonary dysplasia(BPD) in premature infants of Mongolian and Han ethnic groups, aiming to understand the distribution of genotypes in different ethnic groups.Methods:A total of 50 cases of BPD children hospitalized in the Neonatal Department of the Affiliated Hospital of Inner Mongolia Medical University from October 2016 to October 2018 were collected as BPD group.Fifty children without BPD who were hospitalized in the ward were used as a control group.The TNF-α gene of each group of premature infants was analyzed by PCR gene analysis to detect whether there was a mutation in the exon of the TNF-α gene; clarify the genotype of the TNF-α-201 locus and analyze its correlation with BPD.Results:No mutations were detected in the whole exon of TNF-α.Two genotypes can be detected in the TNF-α gene-201 locus of premature infants in the BPD group and the control group: AG and GG.The frequencies of the two genotypes in the BPD group and the control group were 10.0% and 90.0%, 6.0% and 94.0%, respectively; the G allele frequencies were 95.0% and 97.0%, and the A allele frequencies were 5.0% and 3.0%, respectively.There was no significant difference in genotype frequency and allele frequency between two groups(n P>0.05). The frequencies of the AG and GG genotypes in the BPD group and the control group of the Han preterm infants were 10.3% and 89.7%, 6.3% and 93.7%, respectively.The G allele frequencies were 94.8% and 96.9%, and the A allele frequencies were 5.2% and 3.1%, respectively.The frequencies of these two genotypes in the Mongolian premature infants with BPD group and control group were 9.5% and 90.5%, 5.6% and 94.4%, respectively, the G allele frequencies were 95.2% and 97.2%, and the Allele frequencies were 4.8% and 2.8%, respectively.There was no significant difference in the genotype frequency and allele frequency of TNF-α-201 locus between Mongolian and Han nationality compared with the control group (n P>0.05).n Conclusion:No mutation of TNF-α is detected in the two groups of preterm infants, neither Han nor Mongolian.There is no significant correlation between the TNF-α-201 gene and the incidence of BPD in preterm infants.There is no obvious difference in the distribution of locus genes between the Mongolian and Han ethnic groups.