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荧光定量聚合酶链反应-单链构象多态性分析及DNA测序检测绒山羊KAP8.1基因的两个沉默单核苷酸多态性位点

aPCR-SSCP and DNA sequencing detecting two silent SNPs at KAP8.1 gene in the cashmere goat.

作者信息

Zhao M, Chen H, Wang X, Yu H, Wang M, Wang J, Lan X Y, Zhang C F, Zhang L Z, Guo Y K, Zhang B, Hu S R

机构信息

Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Science and Technology, Northwest A & F University, No. 22 Xinong Road, Yangling, Shaanxi, 712100, People's Republic of China.

出版信息

Mol Biol Rep. 2009 Jul;36(6):1387-91. doi: 10.1007/s11033-008-9325-1. Epub 2008 Aug 1.

DOI:10.1007/s11033-008-9325-1
PMID:18670906
Abstract

Keratin-associated proteins 8.1 gene (KAP8.1) is a structural gene responsible for the cashmere. KAP8.1 protein contains high glycine and tyrosine, which concerns regulation and function of the matrix structure fiber. In this study, the polymorphism of KAP8.1 gene was detected by methods of aPCR-SSCP (asymmetric polymerase chain reaction single-strand conformation polymorphism) and DNA sequencing in 791 individuals from two breeds. The results showed that there were two mutations in this gene. The mutations were described as c.63 T>G and c.66 C>G, which would result in two synonymous mutations in KAP8.1 protein. The findings go against previous research, in which there was not polymorphism at KAP8.1 gene. The reasons might be that different cashmere breeds were detected in two studies. Further analysis of results leads us to believe that the polymorphism of KAP8.1 gene might be relevant to fiber diameter.

摘要

角蛋白相关蛋白8.1基因(KAP8.1)是负责羊绒生长的结构基因。KAP8.1蛋白含有高比例的甘氨酸和酪氨酸,这与基质结构纤维的调控和功能有关。在本研究中,采用不对称聚合酶链反应单链构象多态性(aPCR-SSCP)和DNA测序方法,对两个品种的791只个体的KAP8.1基因多态性进行了检测。结果表明,该基因存在两个突变。这两个突变分别为c.63 T>G和c.66 C>G,它们将导致KAP8.1蛋白产生两个同义突变。这些发现与之前的研究结果相悖,之前的研究表明KAP8.1基因不存在多态性。原因可能是两项研究检测的羊绒品种不同。对结果的进一步分析使我们相信,KAP8.1基因的多态性可能与纤维直径有关。

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