摘要
目的 :探讨哺乳动物雷帕霉素靶蛋白(mTOR)基因rs6540964、rs75398396位点多态性与中国汉族儿童川崎病(KD)并冠状动脉损害(CAL)的相关性。方法 :运用PCR扩增产物直接测序法(PCR-SBT)分析100例川崎病患儿和100例健康儿童mTOR基因的rs6540964、rs75398396位点的多态性。结果 :川崎病组mTOR基因rs6540964位点AA、AG、GG基因型分布和A、G等位基因频率与正常对照组比较差异无显著性意义。川崎病组mTOR基因rs75398396位点GG、AG、AA基因型分布和G、A等位基因频率与正常对照组比较差异无显著性意义。川崎病患儿合并CAL组与未合并冠脉损伤(NCAL)组mTOR基因rs6540964位点基因型分布和等位基因频率比较差异无显著性意义。川崎病患儿合并CAL组与NCAL组mTOR基因rs75398396位点基因型分布和等位基因频率比较差异无显著性意义。结论 :尚未发现mTOR基因rs6540964位点及rs75398396位点的多态性与川崎病及其CAL的发生存在关联性。
Objective To investigate the association between the polymorphisms of the mammalian target of rapamycin(mTOR) gene and Kawasaki Disease(KD) and that complicated with coronary artery lesion(CAL). Methods There were 100 patients with KD and 100 healthy subjects were employed in this study. The genotype of loci rs6540964 and rs75398396 were respectively detected with polymerase chain reaction-sequence based typing(PCR-SBT) method. Results For the locus rs6540964 of mTOR gene, there is no significant difference between the KD patients and the controls in genotype frequencies of AA, AG, GG and allele frequencies of A and G. For the locus rs75398396 of mTOR gene, there is no significant difference between the KD patients and the controls in genotype frequencies of GG, AG, AA and allele frequencies of G and A. For the locus rs6540964 of mTOR gene, there is no significant difference between the KD patients with CAL and without CAL in genotype and allele frequencies. For the locus rs75398396 of mTOR gene, there is no significant difference between the KD patients with CAL and without CAL in genotype and allele frequencies. Conclusion No association was found between the loci rs6540964 and rs75398396 polymorphism of mTOR gene and the risk of KD or its complication of CAL in this study.
作者
罗颉
查鹭婷
袁姗
罗叶萍
李卓颖
黄利华
杨作成
Luo Jie;Zha Lu-ting;Yuan Shan;Luo Ye-ping;Li Zhuo-ying;Huang Li-hua;Yang Zuo-cheng(Department of Pediatrics, The 3rd Xiangya Hospital, Central South University, Changsha 410013, China)
出处
《湖南师范大学学报（医学版）》
2018年第6期11-14,共4页
Journal of Hunan Normal University(Medical Sciences)
基金
中南大学湘雅三医院新湘雅人才工程(NO.20150312)
