汉族新生儿呼吸窘迫综合征ABCA3基因多态性频率分布  

Study on the frequency distribution of ABCA 3 gene polymorphism in neonatal respiratory distress syndrome in Han nationality

作　　者：张钰恒 王晓磊[1] 梅花[1] 张艳波[1] 曹晓梅[1] ZHANG Yuheng;WANG Xiaolei;MEI Hua;ZHANG Yanbo;CAO Xioamei(Department of Pediatric,The Affiliated Hospital of Inner Mongolia Medicine University,Hohhot 010050,Inner Mongolia,China)

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》2018年第4期282-287,共6页Journal of Clinical Pediatrics

基　　金：国家自然科学基金项目(No.81260107);内蒙古自治区自然科学基金项目(No.2015MS(LH)0810;2011MS1111)

摘　　要：目的探讨ABCA3外显子10(ABCA3 exon10)基因多态性与内蒙古西部地区汉族新生儿呼吸窘迫综合征(NRDS)发病的相关性。方法收集2014年9月—2016年9月住院汉族NRDS患儿53例作为病例组,同时间段、同民族、同群体中53例非NRDS汉族新生儿作为对照组;提取两组基因组DNA,聚合酶链式反应(PCR)扩增ABCA3 exon10,对扩增产物进行直接测序,并分析比较。结果在ABCA3外显子10的rs13332514(F353F)位点存在单个碱基点突变C>T,密码子由TTC变为TTT,第353编码位点氨基酸未发生改变。病例组和对照组均存在该位点的点突变,病例组的变异率为30.2%,高于对照组(13.2%),差异有统计学意义(P<0.05)。NRDS组在ABCA 3 exon 10的rs 13332514(F353F)位点检测出3种基因型(CC、CT和TT),频率分别为69.8%、20.8%和9.4%,C等位基因频率80.2%,T等位基因频率19.8%。对照组检出2种基因型(CC和CT),频率分别为86.8%和13.2%;C等位基因频率93.4%,T等位基因频率6.6%。病例组T等位基因型频率高于对照组,差异有统计学意义(P<0.05)。结论 ABCA3 exon10的rs13332514(F353F)位点存在单个碱基点突变C>T,该位点变异可能与内蒙古西部地区汉族新生儿发生NRDS有关,等位基因T可能增加NRDS的易感性。Objective To explore the correlation between the polymorphism of exon 10(ABCA3 exon10)in gene of ABCA3 and the incidence of respiratory distress syndrome(NRDS)in the Han nationality in Western Inner Mongolia.Method Fiftythree Han children with NRDS hospitalized from September 2014 to September 2016 were selected as case group.At the same time,53 Han children without NRDS in the same area were served as control group.The DNA in both groups was extracted and polymerase chain reaction(PCR)was used to amplify ABCA3 exon10,and the amplified products were directly sequenced and the results were analyzed.Results At the rs13332514(F353F)site of exon 10 of ABCA3,there was a single base point mutation C>T,the codon was changed from TTC to TTT,and the amino acid at the 353rd coding site did not change.There was a point mutation in both the case group and the control group,and the variation rate of the case group was 30.2%,which was higher than that of the control group(13.2%),and there was significant difference(P<0.05).In NRDS group,3 genotypes(CC,CT and TT)were detected at ABCA3 exon10 rs13332514(F353F)loci,the frequencies were 69.8%,20.8%and 9.4%,respectively.The allele frequency of C was 80.2%,and the frequency of T allele was 19.8%.In the control group,2 genotypes(CC and CT)were detected,the frequency was 86.8%and 13.2%,and the allele frequency of C was 93.4%,and the frequency of T allele was 6.6%.The frequency of T allele in the case group was higher than that in the control group,and there was significant difference(P<0.05).Conclusion There is a single base point mutation C>T in the rs13332514(F353F)locus of ABCA3 exon10.The mutation of this site may be related to the pathogenesis of NRDS in the Han nationality in Western Inner Mongolia.Allele T may increase the susceptibility of NRDS.

关 键 词：呼吸窘迫综合征 ATP结合盒转运子A3 基因多态性 新生儿 

分 类 号：R722.1[医药卫生—儿科]