Malhotra Dheeraj, Relhan Vineet, Reddy B S N, Bamezai Ramesh
National Centre of Applied Human Genetics, School of Life Sciences, Jawaharlal Nehru University, New Delhi 110067, India.
Hum Genet. 2005 Apr;116(5):413-5. doi: 10.1007/s00439-004-1249-9. Epub 2005 Feb 22.
We investigated the Toll-like receptor 2 (TLR2) Arg677Trp polymorphism, associated with lepromatous leprosy in the Korean population and shown to abrogate TLR2-mediated signalling in response to mycobacterial ligands, in 286 Indian leprosy patients and 183 ethnically matched controls. The case-control comparison also involved investigation of possible variation(s) in the promoter region of the TLR2 gene. Genotyping results after direct PCR sequencing showed that the TLR2 Arg677Trp polymorphism associated with lepromatous leprosy in the Korean population is not a true polymorphism of the TLR2 gene and has resulted from the variation present in the 93% homologous duplicated region of TLR2 exon 3 present approximately 23 kb upstream.
我们在286名印度麻风病患者和183名种族匹配的对照中，研究了与韩国人群中瘤型麻风病相关且已证明可消除TLR2介导的针对分枝杆菌配体信号传导的Toll样受体2（TLR2）Arg677Trp多态性。病例对照比较还涉及对TLR2基因启动子区域可能存在的变异进行研究。直接PCR测序后的基因分型结果显示，在韩国人群中与瘤型麻风病相关的TLR2 Arg677Trp多态性并非TLR2基因的真正多态性，而是由位于约23 kb上游的TLR2外显子3的93%同源重复区域中存在的变异导致的。
