[交流] 【求助/交流】基因位點序列查詢求助！

有文獻(xiàn)上說："研究發(fā)現(xiàn) PDZK1（rs12129861）基因位點與尿酸濃度密切相
關(guān)"，請問這個基因位點PDZK1（rs12129861）怎么定位，怎么查看其基因序列？望各位蟲友能抽出時間給予幫助。不勝感激！

說明：PDZK1為含 PDZ 結(jié)構(gòu)域蛋白 1（PDZ domain containing 1，PDZK1）
由含 PDZ 結(jié)構(gòu)域 1 基因編碼，是多種轉(zhuǎn)運體和調(diào)節(jié)蛋白的支架蛋白，在腎、肝、小腸和腎上腺皮質(zhì)表達(dá)。

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1樓 2011-04-13 15:12:27

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jinkui960

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dhd997(金幣+5, MolEPI+1): good 2011-08-08 18:23:04

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1樓: Originally posted by RhythmQiu at 2011-04-13 15:12:27:
有文獻(xiàn)上說："研究發(fā)現(xiàn) PDZK1（rs12129861）基因位點與尿酸濃度密切相
關(guān)"，請問這個基因位點PDZK1（rs12129861）怎么定位，怎么查看其基因序列？望各位蟲友能抽出時間給予幫助。不勝感激！

說明 ...

rs12129861是 PDZK1基因在dbSNP數(shù)據(jù)庫的ID號碼，dbSNP數(shù)據(jù)庫的網(wǎng)站地址如下：
http://www.ncbi.nlm.nih.gov/projects/SNP/
PDZK1有多種SNP，即PDZK1基因存在多種單核苷酸多態(tài)性，rs12129861是PDZK1基因發(fā)生了一個單核苷酸多態(tài)性（A/G）變化。

對應(yīng)的序列：
>gi|224514973:1053161-1053391 Homo sapiens chromosome 1 genomic contig, GRCh37.p5 Primary Assembly
AGGGTCGTGTGTTACCACCTAAGCAGGAATCCCCCAAAGTTCTGCCCTATATTTGGACATCATGTAAATGGAATCCTAGTATGAAAATGAATGAACTACAGCTACTCACAGCAACGTGAGTGAACCTCACAAACATCATATTGAATGAAATAAACCAGAGACAAAAGGAATACACCAGGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGGTCA

對應(yīng)的基因描述見網(wǎng)頁：
http://www.ncbi.nlm.nih.gov/site ... amp;term=rs12129861

相關(guān)的文獻(xiàn)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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3樓2011-08-08 11:00:20

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jinkui960

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RhythmQiu(金幣+5):謝謝參與

文獻(xiàn)（見附件），里面的Table 2里面有詳細(xì)的描述！

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4樓2011-08-08 11:04:54

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2011-08-08 09:41 回復(fù)

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