英国史宾格犬酪氨酸关联蛋白1(TYRP1)基因多态性及单倍型研究

Study on TYRP1 Polymorphism and Haplotypes in English Springer Spaniel

探讨英国史宾格犬毛色与酪氨酸酶相关蛋白1（TYRP1）基因的相关性。本研究采用DNA测序技术、AS-PCR以及PCR-RFLP对英国史宾格犬群体的TYPR1基因编码区进行多态性检测和基因分型,分析多态位点间的关系。结果表明：TYRP1基因编码区存在3个多态位点,T121A和P345△2个多态位点基因型频率分布符合H-W平衡,C991T位点基因型频率分布不符合H-W平衡。经χ~2独立性检验,T121A和P345△多态位点与犬2种毛色极显著相关（P〈0.01）;C991T位点与犬2种毛色显著相关（P〈0.05）。3个多态位点两两间连锁不平衡分析发现连锁不平衡系数｜D′｜值都为1。3个多态位点构成3种单倍型：AC△、TTP和TCP;得到6种单倍型组合,每一种单倍型组合决定犬特定的毛色类型。因此,本研究成功建立了犬毛色基因TYRP1编码区多态位点的检测方法,为进一步研究毛色基因型与犬的胆量大小的相关性提供了前期工作基础。

In order to discuss the relationship between TYRP1 gene and the phenotype of canine＇ s coat color. In the study, Genotypes andanalyse of TYRP1 gene were examined by DNA sequencing, AS-PCR and PCR-RFLP in the 416 English Springer Spaniel. The result showed that three SNPs were found in CDS of TYRP1 gene and allele frequencies of the T121A and P345 were in agreement with Hardy-Weinberg equilibrium while C991T was not. LD analyses revealed that all of the coefficient of LD （ID＇l）were 1. The result of X2, there were extremely significant correlation between the TYRP1 gene polymorphism locus （T121A and P345）and coat color（P〈0.01）;C991T locus and coat color was significant correlation（P〈0.05）. The dominant haplotypes comprising the three loci were AC A, TTP and TCP; Six kinds of haplotype combinations were acquired by using phase 2. 1 and each haplotype combination determined the particular coat color of in English Springer spaniel. Therefore, this study successfully established the detection method of the polymorphism in the dog coat color gene, which also provided the preliminary work basis for further study of the correlation between the genotype of coat color and the guts of canines.