Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses.

Brief Funct Genomics. 2010 May; 9(3):193-207. doi: 10.1093/bfgp/elq002

Bellone RR, Forsyth G, Leeb T, et al.

文章链接：http://bfg.oxfordjournals.org/content/9/3/193.full?sid=970a0df2-fd53-4f7d-b4f4-a364be60e80b

此研究阐述了可能引起豹复杂斑点与先天性静止性夜盲(CSNB)显型马的基因变异。针对前期定位区域进行测序和关联分析得到173K的精细定位区域。随后利用NGS技术手段对此区域周围300kb进行捕获测序发现57个snp，其中6个候选SNP被认为是@相关的变异，进@步说明TRPM1可能与色素沉着和夜视密切相关。

研究方法

结果分析

ECA1候选区域的测序数据以及发现到的SNP位点

对三个品系马的ECA1和LP型上的70个SNP位点进行关联分析，寻找@相关的变异

参考文献

[1] Rebecca R. Bellone, George Forsyth, Tosso Leeb, et al. Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses. Brief Funct Genomics. 2010 May;9(3):193-207. doi: 10.1093/bfgp/elq002.

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