中国美利奴羊(新疆型)GPR143基因一个新的SNP突变及其遗传效应分析
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摘要
本研究旨在挖掘影响中国美利奴羊(新疆型)羊毛性状的关键候选基因及分子标记。本研究的实验动物为中国美利奴羊(新疆型),通过采用PCR-SSCP技术对GPR143基因外显子6核苷酸的多态性进行检测分析,并利用SAS8.1软件最小二乘法分析其突变位点的遗传效应。中国美利奴羊(新疆型)GPR143基因外显子6发生了突变,并形成三种基因型,在外显子6上得到AA、BB和AB三种基因型。在217 bp处AA基因型发生碱基突变,即G→T;AB基因型在229 bp处发生碱基突变,即C→T。通过对基因型与羊毛性状的关系进行关联性分析后发现,BB基因型的光泽显著高于AA和AB基因型。GPR143基因外显子6的突变可能是影响羊毛光泽的重要位点。
This study aimed at exploring key candidate genes and molecular markers influencing the wool traits of Chinese Merino(Xinjiang Type).The nucleotide polymorphism of exon 6 in GPR143 gene was detected by PCR-SSCP technique, and the genetic effect of the mutation site was analyzed by least squares method of SAS8.1 software. The exon 6 of GPR143 gene of Chinese Merino(Xinjiang type) was mutated and three genotypes were formed. On exon 6, three genotypes of AA, BB and AB were obtained. At site 217 bp, the AA genotype has a base mutation of G →T; at site 229 bp, the AB genotype has a base mutation of C →T. By correlating the relationship between genotype and wool traits, it was found that the gloss of BB genotype was significantly higher than that of AA and AB genotypes. The mutation of exon 6 in GPR143 gene may be an important site to influence the wool luster of sheep.
This study aimed at exploring key candidate genes and molecular markers influencing the wool traits of Chinese Merino(Xinjiang Type).The nucleotide polymorphism of exon 6 in GPR143 gene was detected by PCR-SSCP technique, and the genetic effect of the mutation site was analyzed by least squares method of SAS8.1 software. The exon 6 of GPR143 gene of Chinese Merino(Xinjiang type) was mutated and three genotypes were formed. On exon 6, three genotypes of AA, BB and AB were obtained. At site 217 bp, the AA genotype has a base mutation of G →T; at site 229 bp, the AB genotype has a base mutation of C →T. By correlating the relationship between genotype and wool traits, it was found that the gloss of BB genotype was significantly higher than that of AA and AB genotypes. The mutation of exon 6 in GPR143 gene may be an important site to influence the wool luster of sheep.
引文
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[2]李武臣,宫平,等.中国美利奴羊（新疆型）毛密品系主要生产性能遗传力估测[J].新疆畜牧业,2009,(5):25-26.
[3]艾买提·买买提.5个KAP基因在中国美利奴羊（新疆型）群体中的多态性及其与毛性状关联性分析[D].乌鲁木齐：新疆农业大学,2013.
[4]玛依拉·吐尔逊.6个KRT基因在中国美利奴羊(新疆型）中的遗传多态性及其与毛性状的关联性分析[D].乌鲁木齐：新疆农业大学,2013.
[5]冯静,宋天增,杨华,等.绵羊KAP1.3基因遗传多态性分析[J].西南农业学报,2010,23(6):2074-2078.
[6]冯静,杨华,宋天增,等.绵羊KAP1.1基因克隆与但和甘肃多态性分析[J].西南农业学报,2010,23(5):1720-1724.
[7]冯静,宋天增,杨华,等.绵羊KAP6.1基因的遗传多态性分析[J].西南农业学报,2012,25(1):276-278.
[8]许汉峰.角蛋白关联蛋白基因（KAP和KRT）与绵羊毛品质的相关性研究[D].石河子：石河子大学,2008.
[9] Innamorati G, Piccirillo R, Bagnato P, et al. The melanosomal/Lysosomal protein OA1 has properties of a G protein-coupled receptor[J].Pigment Cell Res,2006,19(2):125.
[10] Schiaffino MV, Bassi MT, Galli L, et al. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism[J].Hum Mol Genet,1995,4(12):2319.
[11] llaria Palmisano, Paola Bagnato, Angela Palmigiano, et a1.The ocular albinism type1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells[J].Hum Mol Genet,2008,17(22):3487-3501.
[12] Schiaffino MV, d Addio M, Alloni A, et al. Ocular albinism:evidence for a defect in an intracellular signal transduction system[J].Nat Genet,1999,23(1):108.
[13] Schiaffino MV, Bassi MT, Rugarli EI,et al. Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region[J].Hum Mol Genet,1995,4(3):373.
[14]金怡轩，刘斐.眼白化病Ⅰ型家系致病基因GPR143新突变[J].中国斜视与小儿眼科杂志，2014,22(4):9-11.
[15]周琦,余国春,蒋岸岸.眼白化病1型的遗传基础研究进展[J].医学综述,2013,19(24):4433.
[16] Masukawa D,Nakamura F,Koga M,et al. Localization of ocular albinism-1 gene product GPR143 in the rat central nervous system[J].Neurosci Res,2014,11(88):49-57.
[17] Sepulveda-Vazquez HE,Villanueva-Mendoza C,Zenteno JC,et al.Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism[J].Int ophthal-mol,2014,34(5):1075-1081.
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