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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ECA1LP型上的70SNP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.

[2] A E Koopmans, J Vaarwater, D Paridaens, et al. Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11.British Journal of Cancer. 109, 493-496 (23 July 2013) | doi:10.1038/bjc.2013.299.

[3] Lipson,D.,Capelletti M.,Yelensky R.,Otto G.,Parker A., et al.(2012)Identification of new ALK and RET gene fusions from colorectal and lung cancer biopsies. Nat Med.2012 Feb 12;18(3):382-4. doi: 10.1038/nm.2673.

[4] Saintenac C, Jiang D, Akhunov ED. Targeted analysis of nucleotide and copy number variation by exon capture in allotetraploid wheat genome. Genome Biol. 2011 Sep 14;12(9):R88. doi: 10.1186/gb-2011-12-9-r88.

[5] Leandro Neves1*,John Davis2,Brad Barbazuk3 ,et al. Targeted sequencing in the loblolly pine(Pinus taeda) megagenome by exome capture.BMC Proceedings.2011,5(Suppl 7):O48.

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