摘要目的:探讨肺表面活性物质蛋白B（surfactant protein-B，SP-B）1580位点（rs1130866）基因多态性与维吾尔族新生儿呼吸窘迫综合征（respiratory distress syndrome，RDS）易感性的关系。方法:选择2019年6月至2020年5月喀什地区第一人民医院新生儿科收治的维吾尔族早产儿进行前瞻性研究，根据是否诊断RDS分为RDS组和对照组，采用聚合酶链-限制性片段长度多态性分析技术检测SP-B 1580位点的基因型、等位基因分布，并将维吾尔族RDS早产儿SP-B 1580位点的基因型频率、等位基因频率与蒙古族及不同地区的汉族新生儿进行比较。结果:共纳入160例患儿，RDS组及对照组各80例，两组均可检出3种基因型，即TT、TC及CC型。RDS组3种基因型频率分别为18.8%、53.8%和27.4%，T等位基因频率为45.6%，C等位基因频率为54.4%；对照组3种基因型频率分别为22.5%、52.5%和25.0%，T等位基因频率为48.8%，C等位基因频率为51.3%。两组患儿基因型频率和等位基因频率分布差异无统计学意义（ P>0.05）。维吾尔族SP-B 1580位点CC基因型频率与蒙古族及汉族比较差异均有统计学意义（ P<0.05），而C等位基因频率与蒙古族比较差异无统计学意义（ P>0.05），与汉族比较差异有统计学意义（ P<0.05）。 结论:新疆喀什地区维吾尔族SP-B 1580位点（rs1130866）基因多态性与早产儿RDS无相关性，不同民族SP-B 1580位点基因多态性存在差异。

abstractsObjective:To study the relationship between the 1580 locus (rs1130866) gene polymorphism of pulmonary surfactant protein B (SP-B) gene and susceptibility of neonatal respiratory distress syndrome (RDS) in Uygur newborns.Methods:From June 2019 to May 2020, Uyghur premature infants admitted to the Department of Neonatology of our hospital were prospectively enrolled and assigned into RDS group and control group according to their diagnosis. The genotype and allele distribution of SP-B gene 1580 locus were examined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis technology. The genotype and allele frequency of SP-B gene 1580 locus in RDS infants among Uyghur, Mongolian and Han nationality were compared.Results:A total of 160 infants were enrolled, including 80 in the RDS group and 80 in the control group. Three genotypes (TT, TC and CC) were detected in both groups. The frequencies of the three genotypes in the RDS group were 18.8%, 53.8% and 27.4%, respectively, with T allele frequency 45.6% and C allele frequency 54.4%. The frequencies of the three genotypes in the control group were 22.5%, 52.5% and 25.0%, respectively, with T allele frequency 48.8% and C allele frequency 51.3%. No significant differences existed in genotype frequency and allele frequency distribution between the two groups ( P>0.05). The CC genotype frequency of SP-B gene 1580 locus in Uyghur was significantly different from Mongolian and Han nationality ( P<0.05). Significant difference existed in C allele frequency between Uyghur and Han nationality ( P<0.05), while no significant difference existed in allele frequency between Uyghur and Mongolian nationality ( P>0.05). Conclusions:No correlation exists between the polymorphism of SP-B gene 1580 locus (rs1130866) and RDS in Uygur premature infants. Different ethnic groups have different SP-B gene 1580 locus polymorphism.