TrxR2基因多态性与大骨节病易感性关系的初步研究  

TrxR2 gene polymorphisms may not be associated with the susceptibility to Kashin-Beck disease

作　　者：鲁伟[1] 莫晓燕[1] 熊咏民[2] 

机构地区：[1]西安交通大学生命科学与技术学院,陕西西安710049 [2]西安交通大学医学院环境与疾病相关基因教育部重点实验室,陕西西安710061

出　　处：《南方医科大学学报》2010年第10期2246-2248,共3页Journal of Southern Medical University

基　　金：国家自然科学基金(30671820);陕西省自然科学基金(SJ08ZT12-5)~~

摘　　要：目的研究硫氧还蛋白还原酶2(TrxR2)基因单核苷酸多态性位点与大骨节病(KBD)易感性的关系。方法采用聚合酶链式反应-限制性片段长度多态性(PCR-EFLP)技术检测84例KBD患者和109例正常对照者TrxR2基因rs5748469位点的基因型。结果 KBD组A/A,A/C,C/C基因型频率分别为83.33%,15.48%和1.19%,正常对照组A/A和A/C基因型分别为74.31%和25.69%,二组之间无显著性差异(P=0.13>0.05)。结论该位点与大骨节病易感性之间不具有明显的相关性。Objective To study the association between single nucleotide polymorphisms of thioredoxin reductase-2（TrxR2） gene and the susceptibility to Kashin-Beck disease（KBD）.Methods Polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） was used to analyze the genotype frequencies of rs5748469 in TrxR2 gene in 84 KBD patients and 109 healthy control subjects.Results The genotype frequencies of A/A,A/C,and C/C in the KBD patients were 83.33%,15.48% and 1.19%,as compared with the frequencies of 74.31%,25.69%,and 0.00% in the healthy control,respectively,showing no significant difference in the single nucleotide polymorphisms of TrxR2 gene between the two groups（P=0.13）.Conclusion No obvious correlation can be found between rs5748469 polymorphisms in TrxR2 gene and the susceptibility to KBD.

关 键 词：硫氧还蛋白还原酶-2 单核苷酸多态性 大骨节病 聚合酶链式反应.限制性片段长度多态性 

分 类 号：R684.1[医药卫生—骨科学]