ABCA3基因同义突变与内蒙古地区蒙汉族新生儿呼吸窘迫综合征的相关性研究

Study on the relationship between synonymous mutation of ABCA3 gene and neonatal respiratory distress syndrome of mongolian and han nationality in inner mongolia

目的探讨三磷酸腺苷结合盒A3转运体(ABCA3)基因同义变异是否会增加内蒙古地区蒙汉族新生儿患呼吸窘迫综合征(RDS)的风险.方法对2018年01月至2019年06月于内蒙古医科大学附属医院新生儿科住院的蒙汉族RDS患儿与对照组患儿行ABCA3外显子基因测序,分析ABCA3基因是否存在同义突变。结果共纳入RDS患儿101例,其中蒙古族患儿37例,汉族患儿64例;对照组113例,其中蒙古族患儿45例,汉族患儿68例。蒙汉族RDS患儿与对照组患儿均可检出多个同义突变位点,如:F353F、P585P、A227A、V150V、L982L、A928A、S1372S、P1653P、E1618E、及A1027A等,其中p.A227A,p.F353F,p.P585P和p.S1372S四个同义变异体是常见的同义突变体:,无论蒙古族与汉族,RDS组患儿ABCA3基因同义突变频率均高于对照组患儿,差异有统计学意义(蒙古族:x^(2)=9.402,P=0.002;汉族:x^(2)=9.348,P=0.002)。蒙汉族RDS患儿F353F位点及P585P位点突变率高于对照组患儿,差异有统计学意义(蒙古族F353F位点:x^(2)=5.270,P=O.022;汉族F353F位点:x^(2)=5.532,P=0.019蒙古族P585P位点:x^(2)=4.711,P=0.030;汉族P585P位点:x^(2)=4.480,P=0.034)结论ABCA3基因的同义变异可能会增加内蒙古地区蒙汉族新生儿患RDS的风险,其中F353F位点及P585P位点可能是内蒙古地区蒙汉族新生儿患RDS的易感基因之一。

Objective To investigate whether the synonymous variation of the ATP-binding cassette transporter A3(ABCA3)gene may increase the risk of respiratory distress syndrome(RDS)in Mongolian and Han newborns in Inner Mongolia.Methods From January 2018 to June 2019,the children of Mongolian and Han nationality who were hospitalized in the Department of Neonatal Pediatrics,affiliated Hospital of Inner Mongolia Medical University and the control group were sequenced by ABCA3 exon gene to analyze whether there was synonymous mutation in ABCA3 gene.Results A total of 101 children with RDS were enrolled,including 37 children with Mongolian and 64 with Han children.There were 113 patients in the control group,including 45 Mongolian children and 68 Han children.Children with Mongolian and Han nationality RDS and control group can detect multiple synonymous mutation sites,such as:F353F,P585P,A227A,VI50V,L982L,A928A,S1372S,P1653P,E1618E,and A1027A,etc,among them,four synonymous variants of p.A227A,p.F353F,p.P585P and p.S1372S are common synonymous mutants.In both Mongolian and Han nationality,the frequency of ABCA3 gene synonymous mutation in RDS group was significantly higher than that in control group(Mongolian:x^(2)=9.402,P=0.002;Han:x^(2)=9.348,P=0.002).The mutation rates of F353F and P585P in Mongolian and Han children with RDS were higher than those in the control group,and the difference was statistically significant(Mongolian F353F:x^(2)=5.270,P=0.022;Han F353F:x^(2)=5.532,P=0.019.Mongolian P585P:x^(2)=4.711,P=0.030;Han P585P:x^(2)=4.480,P=O.034).Conclusions The synonymous variation of ABCA3 gene may increase the risk of RDS in Mongolian and Han newborns in Inner Mongolia,and F353F and P585P may be one of the susceptible genes of RDS in Mongolian and Han newborns in Inner Mongolia.