Lu Wei, Mo Xiao-yan, Xiong Yong-min
School of Life Science and Technology, Xi'an Jiaotong University, College of Medicine, Xi'an 710049, China.
Nan Fang Yi Ke Da Xue Xue Bao. 2010 Oct;30(10):2246-8.
To study the association between single nucleotide polymorphisms of thioredoxin reductase-2 (TrxR2) gene and the susceptibility to Kashin-Beck disease (KBD).
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.
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).
No obvious correlation can be found between rs5748469 polymorphisms in TrxR2 gene and the susceptibility to KBD.
研究硫氧还蛋白还原酶2（TrxR2）基因单核苷酸多态性与大骨节病（KBD）易感性之间的关联。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法分析84例大骨节病患者和109例健康对照者TrxR2基因rs5748469的基因型频率。
大骨节病患者中A/A、A/C和C/C基因型频率分别为83.33%、15.48%和1.19%，而健康对照者中相应基因型频率分别为74.31%、25.69%和0.00%，两组TrxR2基因单核苷酸多态性无显著差异（P = 0.13）。
TrxR2基因rs5748469多态性与大骨节病易感性之间无明显相关性。
