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TrxR2基因多态性与大骨节病易感性关系的初步研究
引用本文:Lu W,Mo XY,Xiong YM. TrxR2基因多态性与大骨节病易感性关系的初步研究[J]. 南方医科大学学报, 2010, 30(10): 2246-2248
作者姓名:Lu W  Mo XY  Xiong YM
作者单位: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
基金项目:国家自然科学基金,陕西省自然科学基金
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%~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.

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

TrxR2 gene polymorphisms may not be associated with the susceptibility to Kashin-Beck disease
Lu Wei,Mo Xiao-yan,Xiong Yong-min. TrxR2 gene polymorphisms may not be associated with the susceptibility to Kashin-Beck disease[J]. Journal of Southern Medical University, 2010, 30(10): 2246-2248
Authors:Lu Wei  Mo Xiao-yan  Xiong Yong-min
Affiliation:LU Wei1,MO Xiao-yan1,XIONG Yong-min2 1School of Life Science and Technology,Xi'an Jiaotong University,Xi'an 710049,China,2Key Laboratory of Environment and Gene Related to Diseases,Xi'an Jiaotong University College of Medicine,Xi'an 710061
Abstract: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 7...
Keywords:thioredoxin reductase-2  single nucleotide polymorphism  Kaschin-Beck disease  polymerase chain reaction-restriction fragment length polymorphism  
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