三磷酸腺苷结合盒转运子A3基因多态性与维吾尔族新生儿呼吸窘迫综合征发病的关系研究

Study on the association between adenosine triphosphate-binding cassette transporters A3 gene polymorphism and the incidence of Uyghur neonatal respiratory distress syndrome

目的探讨三磷酸腺苷结合盒转运子A3(ABCA3)rs13332514、rsl7135889位点单核苷酸多态性与新疆喀什地区维吾尔族新生儿呼吸窘迫综合征(NRDS)发病的关系。方法选取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50例维吾尔族NRDS早产儿作为病例组,另选取同期50例维吾尔族非NRDS早产儿作为对照组。采用聚合酶联反应-限制性片段长度多态性技术检测rs13332514、rsl7135889位点的基因型和等位基因频率,分析单核苷酸多态性与NRDS发病的关系。结果两组在rs13332514位点均可检测出T/T、T/C和C/C 3种基因型,病例组3种基因型频率分别为6.0%、42.0%和52.0%,T等位基因频率为27.0%,C等位基因频率为73.0%;对照组3种基因型频率分别为8.0%、36.0%和56.0%,T等位基因频率为26.0%,C等位基因频率为74.0%;两组rs13332514位点基因型频率和等位基因频率比较差异均无统计学意义。病例组在rsl7135889位点可检出T/C、C/C和T/T 3种基因型,基因型频率分别为18.0%、80.0%和2.0%,T等位基因频率为11.0%,C等位基因频率为89.0%;对照组在rsl7135889位点可检出T/C和C/C 2种基因型,基因型频率分别为20.0%和80.0%,T等位基因频率为10.0%,C等位基因频率为90.0%;两组rsl7135889位点基因型频率和等位基因频率分布比较差异均无统计学意义。结论ABCA3基因rs13332514和rsl7135889位点单核苷酸多态性与新疆喀什地区维吾尔族NRDS早产儿的发病无明显关系,临床需扩大样本量进行更深层次研究。

Objective To investigate the relationship between single nucleotide polymorphisms at rs13332514 and rsl7135889 of adenosine triphosphate-binding cassette transporters A3(ABCA3)and the incidence of neonatal respiratory distress syndrome(NRDS)in Uyghur in Kashgar,Xinjiang.Methods 50 Uyghur permature infants with NRDS admitted to the Department of Neonatology of the First People's Hospital of Kashgar Prefecture from June 2019 to May 2020 were selected as the case group,and 50 Uyghur non-NRDS permature infants during the same period were selected as the control group.The genotype and allele frequencies of rs13332514 and rsl7135889 sites were detected by polymerase linked reactivity restriction fragment length polymorphism,and the relationship between single nucleotide polymorphism and the incidence of NRDS was analyzed.Results Three genotypes,T/T,T/C and C/C could be detected at the rs13332514 locus in the two groups,the frequencies of three genotypes in the case group were 6.0%,42.0%and 52.0%,respectively,the frequencies of T allele and C allele were 27.0%and 73.0%,respectively;the frequencies of the three genotypes in the control group were 8.0%,36.0%and 56.0%,respectively,the frequencies of T allele and C allele were 26.0%and 74.0%,respectively;there was no significant difference in genotype frequency and allele frequency of the rs13332514 locus between the two groups.Three genotypes,T/C,C/C and T/T could be detected at rsl7135889 locus in the case group,with genotype frequencies of 18.0%,80.0%and 2.0%,respectively,the frequency of T allele was 11.0%,and the frequency of C allele was 89.0%;two genotypes,T/C and C/C,could be detected in the control group,with genotype frequencies of 20.0%and 80.0%,respectively,the frequency of T allele was 10.0%,and the frequency of C allele was 90.0%;there was no significant difference in the distribution of genotype frequency and allele frequency of the rsl7135889 locus between the two groups.Conclusion There is no significant correlation between the single nucleotide polymorphisms of ABCA3 gene rs13332514 and rs17135889 and the incidence of NRDS in Uyghur in Kashgar,Xinjiang,it is necessary to expand the sample size for further study.