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吴宝金, 茅慧华, 曾咏梅, 殷黎静, 殷筱舒, 杨伟伟, 亢晓冬. 2009: snthr-1Bao稀毛小鼠突变基因的精确定位及克隆鉴定. 动物学研究, 30(3): 267-275. DOI: 10.3724/SP.J.1141.2009.03267
引用本文: 吴宝金, 茅慧华, 曾咏梅, 殷黎静, 殷筱舒, 杨伟伟, 亢晓冬. 2009: snthr-1Bao稀毛小鼠突变基因的精确定位及克隆鉴定. 动物学研究, 30(3): 267-275. DOI: 10.3724/SP.J.1141.2009.03267
WU Bao-jin, MAO Hui-hua, ZENG Yong-mei, YIN Li-jing, YIN Xiao-shu, YANG Wei-wei, K. 2009. Fine Mapping and Identifying the Mutation Gene of snthr-1Bao Scant Hair Mouse. Zoological Research, 30(3): 267-275. DOI: 10.3724/SP.J.1141.2009.03267
Citation: WU Bao-jin, MAO Hui-hua, ZENG Yong-mei, YIN Li-jing, YIN Xiao-shu, YANG Wei-wei, K. 2009. Fine Mapping and Identifying the Mutation Gene of snthr-1Bao Scant Hair Mouse. Zoological Research, 30(3): 267-275. DOI: 10.3724/SP.J.1141.2009.03267

snthr-1Bao稀毛小鼠突变基因的精确定位及克隆鉴定

Fine Mapping and Identifying the Mutation Gene of snthr-1Bao Scant Hair Mouse

  • 摘要: snthr-1Bao稀毛小鼠是本实验室培育的呈单基因隐性遗传的突变系小鼠,突变基因已被初步定位于第9号染色体末端;为了精确定位并鉴定snthr-1Bao稀毛小鼠的突变基因,将(C57BL/6J×snthr-1Bao)F1代互交繁殖F2代小鼠4 400余只,其中稀毛小鼠1 100只,并在2个微卫星、35个可能的简单序列重复标记(simple sequence repeat,SSR)及3个酶切扩增多态性序列(c1eaved amplified polymorphic sequences,CAPS)标记中找到4个合适的基因组标记。利用这些标记及F2代稀毛小鼠将突变基因精确定位到第9号染色体距着丝粒117.763 kb及119.129 kb之间1.367 Mb的范围内,在其间的21个基因中确定Plcd1为稀毛突变的强力候选基因。通过对基因组的直接测序,发现snthr-1Bao稀毛小鼠基因组上有一个14 883 bp的缺失,这一缺失包含了Plcd1基因的4—15号外显子及Vill基因的10—19号外显子。推测极可能是Plcd1基因缺失导致snthr-1Bao小鼠出现稀毛表型。

     

    Abstract: To finely map and identify the mutant gene of snthr-1Bao mouse whose mutation gene showing single gene recessive heredity was mapped on the terminal side of chromosome 9,F2 mice bred through (C57BL/6J ×snthr-1Bao )F1 mice intercrossing and the polymorphisms of 2 microsetallites, 35 SSRs presumed by computer and 3 SNPs chosen and tested were for fine mapping. RT-PCR amplifying cDNA combined with genomic sequence to identify mutation after affirming candidate gene. Based on genomic markers D9Mit151, a new SSR,two SNPs (rs8 254 361 and rs30 195 705) and 1 100 F2 scant hair mice selected from over 4 400 F2 mice, the mutant gene was narrowed down to a 1.367 Mb region between 117.762 kb and 119.129 kb from the centromere on the chromosome 9 and Plcd1was the primary candidate gene. Genomic sequence revealed there was a 14 883 bp deletion and such deletion destructed the Plcd1 and Vill. The 14 883 bp genomic deletion covering subtotal Plcd1and Vill, more likely the Plcd1, is responsible for the abnormal phenotype of snthr-1Bao mouse.

     

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