宁夏地区汉族早产儿新生儿呼吸窘迫综合征与SFTPB基因位点变异的相关性研究  

Analysis on the correlation between neonatal respiratory distress syndrome and SFTPB gene locus mutation in Han ethnic premature infants in Ningxia area

作　　者：袁娇 王娟 YUAN Jiao;WANG Juan(Yinchuan Women and Children Health Care Hospital,Yinchuan,Ningxia 750001,China)

机构地区：[1]银川市妇幼保健院,宁夏银川750001

出　　处：《中国妇幼保健》2025年第6期1107-1111,共5页Maternal and Child Health Care of China

基　　金：宁夏回族自治区自然科学基金(2021AAC03522)。

摘　　要：目的探讨宁夏回族自治区汉族早产儿新生儿呼吸窘迫综合征(NRDS)与SFTPB基因外显子及内含子连接区变异位点的相关性。方法选取2019年7月—2022年1月银川市妇幼保健院新生儿科收治的祖籍三代在宁夏回族自治区,且胎龄≤34周的汉族早产儿为研究对象,其中诊断为NRDS的40例早产儿为NRDS组,未诊断为NRDS的40例早产儿为对照组。应用高通量测序技术分析两组患儿SFTPB基因编码区和内含子连接区。结果40例NRDS患儿存在11个位点变异,其中SFTPB基因编码区位点变异5个,均为杂合突变,内含子区位点变异6个。NRDS组SFTPB基因上的内含子rs3024798位点变异频率高于对照组(χ^(2)=7.813,P<0.05),外显子2区域的rs2077079位点变异频率高于对照组(χ^(2)=9.600,P<0.05)。位于编码区的rs2077079位点可以检出3种基因型,分别为AA、AC、CC。NRDS组中,AA、AC、CC基因型分布频率分别为60.00%、30.00%、10.00%。对照组中,AA、AC、CC基因型分布频率分别为90.00%、5.00%、5.00%。两组AA、AC、CC基因型分布频率比较差异均有统计学意义(χ^(2)=6.550,P<0.05)。NRDS组中C等位基因的频率为25.00%,对照组中C等位基因的频率为7.50%,差异有统计学意义(χ^(2)=9.001,P<0.05)。将40例NRDS患儿根据rs2077079位点是否发生变异,分为变异组(16例)与未变异组(24例)。变异组和未变异组患儿的胸片Ⅲ~Ⅳ级比例、注射肺表面活性物质(PS)比例、有创机械通气比例、呼吸机使用时间及住院天数比较,差异均有统计学意义(P<0.05)。结论SFTPB基因外显子2区域的rs2077079位点变异可能参与宁夏地区汉族早产儿NRDS的发生,并与疾病的严重程度有关。Objective To explore the correlation between neonatal respiratory distress syndrome(NRDS)of Han ethnic premature infants in Ningxia Hui Autonomous Region and SFTPB gene locus mutation of exon and intron junction region.Methods Han ethnic premature infants were selected from July 2019 to January 2022 who were admitted in Neonatal Department of Yinchuan Women and Children Health Care Hospital from three generations of ancestry in Ningxia Hui Autonomous Region and whose gestational age was less than or equal to 34 weeks.Forty premature infants diagnosed as NRDS were selected as NRDS group,and the premature infants without NRDS diagnosis during the same period were selected as control group.The coding region and intron junction region of SFTPB gene in the two groups were analyzed by high-throughput sequencing technology.Results There were 11 loci variants in the 40 NRDS infants,including 5 loci variants in coding region,all of which were heterozygous mutations,and 6 loci in intron region.The variation frequency of intron rs3024798 in SFTPB gene in NRDS group was higher than that in control group(χ^(2)=7.813,P<0.05),rs2077079 in exon 2 region was higher than that in control group(χ^(2)=9.600,P<0.05).The rs2077079 locus detected three genotypes,which were AA,AC,and CC.In NRDS group,the frequencies of AA,AC,and CC genotypes were 60.00%,30.00%,and 10.00%,respectively,and the frequencies in control group were 90.00%,5.00%,and 5.00%,respectively,there were statistically significant differences(χ^(2)=6.550,P<0.05).The frequencies of C allele were 25.00%in NRDS group and 7.50%in control group,there was statistically significant difference(χ^(2)=9.001,P<0.05).Forty NRDS infants were divided into mutation group(16 cases)and non-mutation group(24 cases)according to rs2077079 locus mutation or not.There were statistically significant differences in the proportions of infants with stageⅢ-Ⅳon chest X-ray,injection of pulmonary surfactant(PS),invasive ventilator,ventilator usage time,and hospitalization days between mutatio

关 键 词：SFTPB基因 早产儿 新生儿呼吸窘迫综合征 高通量测序 位点变异 

分 类 号：R722.6[医药卫生—儿科]