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jinkui960

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RhythmQiu(金币+5):谢谢参与
dhd997(金币+5, MolEPI+1): good 2011-08-08 18:23:04
引用回帖:
1楼: Originally posted by RhythmQiu at 2011-04-13 15:12:27:
有文献上说:"研究发现 PDZK1(rs12129861)基因位点与尿酸浓度密切相
关",请问这个基因位点PDZK1(rs12129861)怎么定位,怎么查看其基因序列?望各位虫友能抽出时间给予帮助。不胜感激!

  说明 ...

rs12129861是 PDZK1基因在dbSNP数据库的ID号码,dbSNP数据库的网站地址如下:
http://www.ncbi.nlm.nih.gov/projects/SNP/
PDZK1有多种SNP,即PDZK1基因存在多种单核苷酸多态性,rs12129861是PDZK1基因发生了一个单核苷酸多态性(A/G)变化。

对应的序列:
>gi|224514973:1053161-1053391 Homo sapiens chromosome 1 genomic contig, GRCh37.p5 Primary Assembly
AGGGTCGTGTGTTACCACCTAAGCAGGAATCCCCCAAAGTTCTGCCCTATATTTGGACATCATGTAAATGGAATCCTAGTATGAAAATGAATGAACTACAGCTACTCACAGCAACGTGAGTGAACCTCACAAACATCATATTGAATGAAATAAACCAGAGACAAAAGGAATACACCAGGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGGTCA

对应的基因描述见网页:
http://www.ncbi.nlm.nih.gov/site ... amp;term=rs12129861

相关的文献如下:

1) Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.
Stark K, Reinhard W, Grassl M, Erdmann J, Schunkert H, Illig T, Hengstenberg C.
PLoS One. 2009 Nov 5;4(11):e7729.

2) Replication of the five novel loci for uric acid concentrations and potential mediating mechanisms.
van der Harst P, Bakker SJ, de Boer RA, Wolffenbuttel BH, Johnson T, Caulfield MJ, Navis G.
Hum Mol Genet. 2010 Jan 15;19(2):387-95. Epub 2009 Oct 27.

3) Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
Kolz M, Johnson T, Sanna S, Teumer A, Vitart V, Perola M, Mangino M, Albrecht E, Wallace C, Farrall M, Johansson A, Nyholt DR, Aulchenko Y, Beckmann JS, Bergmann S, Bochud M, Brown M, Campbell H; EUROSPAN Consortium, Connell J, Dominiczak A, Homuth G, Lamina C, McCarthy MI; ENGAGE Consortium, Meitinger T, Mooser V, Munroe P, Nauck M, Peden J, Prokisch H, Salo P, Salomaa V, Samani NJ, Schlessinger D, Uda M, V?lker U, Waeber G, Waterworth D, Wang-Sattler R, Wright AF, Adamski J, Whitfield JB, Gyllensten U, Wilson JF, Rudan I, Pramstaller P, Watkins H; PROCARDIS Consortium, Doering A, Wichmann HE; KORA Study, Spector TD, Peltonen L, V?lzke H, Nagaraja R, Vollenweider P, Caulfield M; WTCCC, Illig T, Gieger C.
PLoS Genet. 2009 Jun;5(6):e1000504. Epub 2009 Jun 5.

[ Last edited by jinkui960 on 2011-8-8 at 11:54 ]
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